Canonical Allele Identifier: CA339006612

Gene: GALE

Linked Data

• dbSNP Id: rs2148409612
• gnomAD v4: 1-23796522-G-A
• MyVariant Identifiers: chr1:g.24123012G>A (hg19) ; chr1:g.23796522G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796522G>A , CM000663.2:g.23796522G>A	GRCh38
NC_000001.10:g.24123012G>A , CM000663.1:g.24123012G>A	GRCh37
NC_000001.9:g.23995599G>A	NCBI36
NG_007068.1:g.9283C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.860C>T MANE Select	ENSP00000483375.1:p.Ala287Val
ENST00000374497.7:c.860C>T	ENSP00000363621.3:p.Ala287Val
ENST00000418277.5:c.668C>T	ENSP00000414719.1:p.Ala223Val
ENST00000429356.5:c.603+175C>T	ENSP00000398585.1:n.603+175C>T
ENST00000456977.5:c.153+175C>T	ENSP00000397045.1:n.153+175C>T
ENST00000459934.5:n.1088C>T
ENST00000469556.1:n.364C>T
ENST00000481736.5:n.1264C>T
ENST00000617979.4:c.860C>T	ENSP00000483375.1:p.Ala287Val
NM_000403.3:c.860C>T	NP_000394.2:p.Ala287Val
NM_001008216.1:c.860C>T	NP_001008217.1:p.Ala287Val
NM_001127621.1:c.860C>T	NP_001121093.1:p.Ala287Val
NM_001008216.2:c.860C>T MANE Select	NP_001008217.1:p.Ala287Val
NM_000403.4:c.860C>T	NP_000394.2:p.Ala287Val
NM_001127621.2:c.860C>T	NP_001121093.1:p.Ala287Val