Canonical Allele Identifier: CA3020057

Gene: ADH1B

Linked Data

• dbSNP Id: rs6413413
• ExAC: 4:100239284 T / A
• gnomAD v2: 4-100239284-T-A
• gnomAD v3: 4-99318127-T-A
• gnomAD v4: 4-99318127-T-A
• MyVariant Identifiers: chr4:g.100239284T>A (hg19) ; chr4:g.99318127T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318127T>A , CM000666.2:g.99318127T>A	GRCh38
NC_000004.11:g.100239284T>A , CM000666.1:g.100239284T>A	GRCh37
NC_000004.10:g.100458307T>A	NCBI36
NG_011435.1:g.8289A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305046.13:c.178A>T MANE Select	ENSP00000306606.8:p.Thr60Ser
ENST00000639454.1:c.178A>T	ENSP00000491622.1:p.Thr60Ser
ENST00000305046.12:c.178A>T	ENSP00000306606.8:p.Thr60Ser
ENST00000504498.1:n.232A>T
ENST00000506651.5:c.58A>T	ENSP00000425998.2:p.Thr20Ser
ENST00000515694.4:n.2273A>T
ENST00000625860.2:c.58A>T	ENSP00000486614.1:p.Thr20Ser
ENST00000632775.1:n.741A>T
NM_000668.5:c.178A>T	NP_000659.2:p.Thr60Ser
NM_001286650.1:c.58A>T	NP_001273579.1:p.Thr20Ser
NM_000668.6:c.178A>T MANE Select	NP_000659.2:p.Thr60Ser
NM_001286650.2:c.58A>T	NP_001273579.1:p.Thr20Ser