Canonical Allele Identifier: CA541345396

Gene: BTD HACL1

Linked Data

• gnomAD v2: 3-15643286-C-T
• MyVariant Identifiers: chr3:g.15643286C>T (hg19) ; chr3:g.15601779C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601779C>T , CM000665.2:g.15601779C>T	GRCh38
NC_000003.11:g.15643286C>T , CM000665.1:g.15643286C>T	GRCh37
NC_000003.10:g.15618290C>T	NCBI36
NG_008019.1:g.5032C>T
NG_008019.2:g.5428C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000671928.2:c.-132C>T (BTD)	ENSP00000500069.2:n.-132C>T
ENST00000672892.2:c.-132C>T (BTD)	ENSP00000499944.2:n.-132C>T
ENST00000303498.10:c.-408C>T (BTD)	ENSP00000306477.6:n.-408C>T
ENST00000417015.3:c.-132C>T (BTD)	ENSP00000403775.3:n.-132C>T
ENST00000427382.2:c.-17+132C>T (BTD)	ENSP00000397113.2:n.-17+132C>T
ENST00000449107.7:c.-17+9C>T (BTD)	ENSP00000388212.2:n.-17+9C>T
ENST00000467027.6:n.16C>T (BTD)
ENST00000643237.3:c.-132C>T (BTD) MANE Select	ENSP00000495254.2:n.-132C>T
ENST00000646371.1:c.-293+9C>T (BTD)	ENSP00000495866.1:n.-293+9C>T
ENST00000672065.1:c.-72C>T (BTD)	ENSP00000500403.1:n.-72C>T
ENST00000672112.1:c.-254C>T (BTD)	ENSP00000500193.1:n.-254C>T
ENST00000672141.1:c.-132C>T (BTD)	ENSP00000500210.1:n.-132C>T
ENST00000672336.1:c.-824C>T (BTD)	ENSP00000500267.1:n.-824C>T
ENST00000672427.1:c.-132C>T (BTD)	ENSP00000500131.1:n.-132C>T
ENST00000672968.1:n.20+9C>T (BTD)
ENST00000673467.1:c.-132C>T (BTD)	ENSP00000500288.1:n.-132C>T
ENST00000673620.1:c.-17+9C>T (BTD)	ENSP00000500325.1:n.-17+9C>T
ENST00000303498.9:c.-72C>T (BTD)	ENSP00000306477.5:n.-72C>T
ENST00000321169.9:c.-316G>A (HACL1)	ENSP00000323811.5:n.-316G>A
ENST00000417015.1:c.*180C>T (BTD)	ENSP00000403775.1:n.*180C>T
ENST00000427382.1:c.-17+132C>T (BTD)	ENSP00000397113.1:n.-17+132C>T
ENST00000449107.5:c.50+9C>T (BTD)	ENSP00000388212.1:n.50+9C>T
ENST00000471964.5:n.9C>T (BTD)
ENST00000480711.1:n.32C>T (BTD)
ENST00000494021.1:n.401+9C>T (BTD)
ENST00000628377.2:c.-316G>A (HACL1)	ENSP00000486684.1:n.-316G>A
NM_000060.3:c.-72C>T (BTD)	NP_000051.1:n.-72C>T
NM_001281723.1:c.50+9C>T (BTD)	NP_001268652.1:n.50+9C>T
NM_001281724.1:c.-254C>T (BTD)	NP_001268653.1:n.-254C>T
NM_001281726.1:c.-72C>T (BTD)	NP_001268655.1:n.-72C>T
NM_001284413.1:c.-316G>A (HACL1)	NP_001271342.1:n.-316G>A
NM_001284415.1:c.-316G>A (HACL1)	NP_001271344.1:n.-316G>A
NM_001284416.1:c.-316G>A (HACL1)	NP_001271345.1:n.-316G>A
NM_012260.3:c.-316G>A (HACL1)	NP_036392.2:n.-316G>A
NR_104315.1:n.74G>A (HACL1)
NM_000060.4:c.-72C>T (BTD)	NP_000051.1:n.-72C>T
NM_001281723.2:c.50+9C>T (BTD)	NP_001268652.1:n.50+9C>T
NM_001281724.2:c.-254C>T (BTD)	NP_001268653.1:n.-254C>T
NM_001323582.1:c.-408C>T (BTD)	NP_001310511.1:n.-408C>T
NM_001281723.3:c.-17+9C>T (BTD)	NP_001268652.2:n.-17+9C>T
NM_001281724.3:c.-320C>T (BTD)	NP_001268653.2:n.-320C>T
NM_001370658.1:c.-132C>T (BTD) MANE Select	NP_001357587.1:n.-132C>T
NM_001370752.1:c.-132C>T (BTD)	NP_001357681.1:n.-132C>T
NM_001370753.1:c.-132C>T (BTD)	NP_001357682.1:n.-132C>T
NM_001281726.2:c.-132C>T (BTD)	NP_001268655.2:n.-132C>T