Canonical Allele Identifier: CA339006616

Gene: GALE

Linked Data

• dbSNP Id: rs1202818248
• gnomAD v2: 1-24123013-C-T
• gnomAD v4: 1-23796523-C-T
• MyVariant Identifiers: chr1:g.24123013C>T (hg19) ; chr1:g.23796523C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796523C>T , CM000663.2:g.23796523C>T	GRCh38
NC_000001.10:g.24123013C>T , CM000663.1:g.24123013C>T	GRCh37
NC_000001.9:g.23995600C>T	NCBI36
NG_007068.1:g.9282G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.859G>A MANE Select	ENSP00000483375.1:p.Ala287Thr
ENST00000374497.7:c.859G>A	ENSP00000363621.3:p.Ala287Thr
ENST00000418277.5:c.667G>A	ENSP00000414719.1:p.Ala223Thr
ENST00000429356.5:c.603+174G>A	ENSP00000398585.1:n.603+174G>A
ENST00000456977.5:c.153+174G>A	ENSP00000397045.1:n.153+174G>A
ENST00000459934.5:n.1087G>A
ENST00000469556.1:n.363G>A
ENST00000481736.5:n.1263G>A
ENST00000617979.4:c.859G>A	ENSP00000483375.1:p.Ala287Thr
NM_000403.3:c.859G>A	NP_000394.2:p.Ala287Thr
NM_001008216.1:c.859G>A	NP_001008217.1:p.Ala287Thr
NM_001127621.1:c.859G>A	NP_001121093.1:p.Ala287Thr
NM_001008216.2:c.859G>A MANE Select	NP_001008217.1:p.Ala287Thr
NM_000403.4:c.859G>A	NP_000394.2:p.Ala287Thr
NM_001127621.2:c.859G>A	NP_001121093.1:p.Ala287Thr