Canonical Allele Identifier: CA2277161

Gene: BTD HACL1

Linked Data

• dbSNP Id: rs750854903
• ExAC: 3:15643317 G / A
• gnomAD v2: 3-15643317-G-A
• gnomAD v4: 3-15601810-G-A
• MyVariant Identifiers: chr3:g.15643317G>A (hg19) ; chr3:g.15601810G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601810G>A , CM000665.2:g.15601810G>A	GRCh38
NC_000003.11:g.15643317G>A , CM000665.1:g.15643317G>A	GRCh37
NC_000003.10:g.15618321G>A	NCBI36
NG_008019.1:g.5063G>A
NG_008019.2:g.5459G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000671928.2:c.-101G>A (BTD)	ENSP00000500069.2:n.-101G>A
ENST00000672892.2:c.-101G>A (BTD)	ENSP00000499944.2:n.-101G>A
ENST00000303498.10:c.-377G>A (BTD)	ENSP00000306477.6:n.-377G>A
ENST00000417015.3:c.-101G>A (BTD)	ENSP00000403775.3:n.-101G>A
ENST00000427382.2:c.-17+163G>A (BTD)	ENSP00000397113.2:n.-17+163G>A
ENST00000437172.6:c.-289G>A (BTD)	ENSP00000400995.2:n.-289G>A
ENST00000449107.7:c.-17+40G>A (BTD)	ENSP00000388212.2:n.-17+40G>A
ENST00000467027.6:n.47G>A (BTD)
ENST00000643237.3:c.-101G>A (BTD) MANE Select	ENSP00000495254.2:n.-101G>A
ENST00000646371.1:c.-293+40G>A (BTD)	ENSP00000495866.1:n.-293+40G>A
ENST00000672065.1:c.-41G>A (BTD)	ENSP00000500403.1:n.-41G>A
ENST00000672112.1:c.-223G>A (BTD)	ENSP00000500193.1:n.-223G>A
ENST00000672141.1:c.-101G>A (BTD)	ENSP00000500210.1:n.-101G>A
ENST00000672336.1:c.-793G>A (BTD)	ENSP00000500267.1:n.-793G>A
ENST00000672427.1:c.-101G>A (BTD)	ENSP00000500131.1:n.-101G>A
ENST00000672760.1:c.-101G>A (BTD)	ENSP00000500530.1:n.-101G>A
ENST00000672968.1:n.20+40G>A (BTD)
ENST00000673467.1:c.-101G>A (BTD)	ENSP00000500288.1:n.-101G>A
ENST00000673620.1:c.-17+40G>A (BTD)	ENSP00000500325.1:n.-17+40G>A
ENST00000303498.9:c.-41G>A (BTD)	ENSP00000306477.5:n.-41G>A
ENST00000321169.9:c.-347C>T (HACL1)	ENSP00000323811.5:n.-347C>T
ENST00000417015.1:c.*211G>A (BTD)	ENSP00000403775.1:n.*211G>A
ENST00000427382.1:c.-17+163G>A (BTD)	ENSP00000397113.1:n.-17+163G>A
ENST00000437172.5:c.-223G>A (BTD)	ENSP00000400995.1:n.-223G>A
ENST00000449107.5:c.50+40G>A (BTD)	ENSP00000388212.1:n.50+40G>A
ENST00000467027.5:n.10G>A (BTD)
ENST00000471964.5:n.40G>A (BTD)
ENST00000480711.1:n.63G>A (BTD)
ENST00000494021.1:n.401+40G>A (BTD)
ENST00000628377.2:c.-347C>T (HACL1)	ENSP00000486684.1:n.-347C>T
NM_000060.3:c.-41G>A (BTD)	NP_000051.1:n.-41G>A
NM_001281723.1:c.50+40G>A (BTD)	NP_001268652.1:n.50+40G>A
NM_001281724.1:c.-223G>A (BTD)	NP_001268653.1:n.-223G>A
NM_001281726.1:c.-41G>A (BTD)	NP_001268655.1:n.-41G>A
NM_001284413.1:c.-347C>T (HACL1)	NP_001271342.1:n.-347C>T
NM_001284415.1:c.-347C>T (HACL1)	NP_001271344.1:n.-347C>T
NM_001284416.1:c.-347C>T (HACL1)	NP_001271345.1:n.-347C>T
NM_012260.3:c.-347C>T (HACL1)	NP_036392.2:n.-347C>T
NR_104315.1:n.43C>T (HACL1)
XM_006713314.2:c.-377G>A (BTD)	XP_006713377.1:n.-377G>A
XM_011534041.1:c.-275G>A (BTD)	XP_011532343.1:n.-275G>A
NM_000060.4:c.-41G>A (BTD)	NP_000051.1:n.-41G>A
NM_001281723.2:c.50+40G>A (BTD)	NP_001268652.1:n.50+40G>A
NM_001281724.2:c.-223G>A (BTD)	NP_001268653.1:n.-223G>A
NM_001323582.1:c.-377G>A (BTD)	NP_001310511.1:n.-377G>A
XM_011534041.2:c.-275G>A (BTD)	XP_011532343.1:n.-275G>A
XM_017007088.1:c.-551G>A (BTD)	XP_016862577.1:n.-551G>A
NM_001281723.3:c.-17+40G>A (BTD)	NP_001268652.2:n.-17+40G>A
NM_001281724.3:c.-289G>A (BTD)	NP_001268653.2:n.-289G>A
NM_001370658.1:c.-101G>A (BTD) MANE Select	NP_001357587.1:n.-101G>A
NM_001370752.1:c.-101G>A (BTD)	NP_001357681.1:n.-101G>A
NM_001370753.1:c.-101G>A (BTD)	NP_001357682.1:n.-101G>A
NM_001281726.2:c.-101G>A (BTD)	NP_001268655.2:n.-101G>A