Canonical Allele Identifier: CA351610276

Gene: BTD HACL1

Linked Data

• MyVariant Identifiers: chr3:g.15643273A>C (hg19) ; chr3:g.15601766A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601766A>C , CM000665.2:g.15601766A>C	GRCh38
NC_000003.11:g.15643273A>C , CM000665.1:g.15643273A>C	GRCh37
NC_000003.10:g.15618277A>C	NCBI36
NG_008019.1:g.5019A>C
NG_008019.2:g.5415A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000671928.2:c.-145A>C (BTD)	ENSP00000500069.2:n.-145A>C
ENST00000672892.2:c.-145A>C (BTD)	ENSP00000499944.2:n.-145A>C
ENST00000303498.10:c.-421A>C (BTD)	ENSP00000306477.6:n.-421A>C
ENST00000417015.3:c.-145A>C (BTD)	ENSP00000403775.3:n.-145A>C
ENST00000427382.2:c.-17+119A>C (BTD)	ENSP00000397113.2:n.-17+119A>C
ENST00000449107.7:c.-21A>C (BTD)	ENSP00000388212.2:n.-21A>C
ENST00000467027.6:n.3A>C (BTD)
ENST00000643237.3:c.-145A>C (BTD) MANE Select	ENSP00000495254.2:n.-145A>C
ENST00000646371.1:c.-297A>C (BTD)	ENSP00000495866.1:n.-297A>C
ENST00000672065.1:c.-85A>C (BTD)	ENSP00000500403.1:n.-85A>C
ENST00000672112.1:c.-267A>C (BTD)	ENSP00000500193.1:n.-267A>C
ENST00000672141.1:c.-145A>C (BTD)	ENSP00000500210.1:n.-145A>C
ENST00000672336.1:c.-837A>C (BTD)	ENSP00000500267.1:n.-837A>C
ENST00000672427.1:c.-145A>C (BTD)	ENSP00000500131.1:n.-145A>C
ENST00000672968.1:n.16A>C (BTD)
ENST00000673620.1:c.-21A>C (BTD)	ENSP00000500325.1:n.-21A>C
ENST00000303498.9:c.-85A>C (BTD)	ENSP00000306477.5:n.-85A>C
ENST00000321169.9:c.-303T>G (HACL1)	ENSP00000323811.5:n.-303T>G
ENST00000417015.1:c.*167A>C (BTD)	ENSP00000403775.1:n.*167A>C
ENST00000427382.1:c.-17+119A>C (BTD)	ENSP00000397113.1:n.-17+119A>C
ENST00000449107.5:c.46A>C (BTD)	ENSP00000388212.1:p.Ser16Arg
ENST00000480711.1:n.19A>C (BTD)
ENST00000494021.1:n.397A>C (BTD)
ENST00000628377.2:c.-303T>G (HACL1)	ENSP00000486684.1:n.-303T>G
NM_000060.3:c.-85A>C (BTD)	NP_000051.1:n.-85A>C
NM_001281723.1:c.46A>C (BTD)	NP_001268652.1:p.Ser16Arg
NM_001281724.1:c.-267A>C (BTD)	NP_001268653.1:n.-267A>C
NM_001281726.1:c.-85A>C (BTD)	NP_001268655.1:n.-85A>C
NM_001284413.1:c.-303T>G (HACL1)	NP_001271342.1:n.-303T>G
NM_001284415.1:c.-303T>G (HACL1)	NP_001271344.1:n.-303T>G
NM_001284416.1:c.-303T>G (HACL1)	NP_001271345.1:n.-303T>G
NM_012260.3:c.-303T>G (HACL1)	NP_036392.2:n.-303T>G
NR_104315.1:n.87T>G (HACL1)
NM_000060.4:c.-85A>C (BTD)	NP_000051.1:n.-85A>C
NM_001281723.2:c.46A>C (BTD)	NP_001268652.1:p.Ser16Arg
NM_001281724.2:c.-267A>C (BTD)	NP_001268653.1:n.-267A>C
NM_001323582.1:c.-421A>C (BTD)	NP_001310511.1:n.-421A>C
NM_001281723.3:c.-21A>C (BTD)	NP_001268652.2:n.-21A>C
NM_001281724.3:c.-333A>C (BTD)	NP_001268653.2:n.-333A>C
NM_001370658.1:c.-145A>C (BTD) MANE Select	NP_001357587.1:n.-145A>C
NM_001370752.1:c.-145A>C (BTD)	NP_001357681.1:n.-145A>C
NM_001370753.1:c.-145A>C (BTD)	NP_001357682.1:n.-145A>C
NM_001281726.2:c.-145A>C (BTD)	NP_001268655.2:n.-145A>C