Canonical Allele Identifier: CA416691134

Gene: GALE

Linked Data

• dbSNP Id: rs369432619
• gnomAD v4: 1-23798201-C-G
• MyVariant Identifiers: chr1:g.24124691C>G (hg19) ; chr1:g.23798201C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798201C>G , CM000663.2:g.23798201C>G	GRCh38
NC_000001.10:g.24124691C>G , CM000663.1:g.24124691C>G	GRCh37
NC_000001.9:g.23997278C>G	NCBI36
NG_007068.1:g.7604G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.267G>C MANE Select	ENSP00000483375.1:p.Ala89=
ENST00000374497.7:c.267G>C	ENSP00000363621.3:p.Ala89=
ENST00000418277.5:c.75G>C	ENSP00000414719.1:p.Ala25=
ENST00000425913.5:c.267G>C	ENSP00000393359.1:p.Ala89=
ENST00000429356.5:c.75G>C	ENSP00000398585.1:p.Ala25=
ENST00000445705.1:c.267G>C	ENSP00000398257.1:p.Ala89=
ENST00000459934.5:n.385G>C
ENST00000467493.5:n.727G>C
ENST00000470949.5:n.212G>C
ENST00000481736.5:n.671G>C
ENST00000486382.1:n.368G>C
ENST00000617979.4:c.267G>C	ENSP00000483375.1:p.Ala89=
NM_000403.3:c.267G>C	NP_000394.2:p.Ala89=
NM_001008216.1:c.267G>C	NP_001008217.1:p.Ala89=
NM_001127621.1:c.267G>C	NP_001121093.1:p.Ala89=
NM_001008216.2:c.267G>C MANE Select	NP_001008217.1:p.Ala89=
NM_000403.4:c.267G>C	NP_000394.2:p.Ala89=
NM_001127621.2:c.267G>C	NP_001121093.1:p.Ala89=