Canonical Allele Identifier: CA19282116
Gene: GALE HGNC NCBI

Linked Data

ClinVar Variation Id: 2763165
ClinVar RCV Id: RCV003503288
dbSNP Id: rs200996331
gnomAD v2: 1-24124679-G-A
gnomAD v3: 1-23798189-G-A
gnomAD v4: 1-23798189-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23798189G>A , CM000663.2:g.23798189G>A GRCh38
NC_000001.10:g.24124679G>A , CM000663.1:g.24124679G>A GRCh37
NC_000001.9:g.23997266G>A NCBI36
NG_007068.1:g.7616C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617979.5:c.279C>T MANE Select ENSP00000483375.1:p.Ala93=
ENST00000374497.7:c.279C>T ENSP00000363621.3:p.Ala93=
ENST00000418277.5:c.87C>T ENSP00000414719.1:p.Ala29=
ENST00000425913.5:c.279C>T ENSP00000393359.1:p.Ala93=
ENST00000429356.5:c.87C>T ENSP00000398585.1:p.Ala29=
ENST00000445705.1:c.279C>T ENSP00000398257.1:p.Ala93=
ENST00000459934.5:n.397C>T
ENST00000467493.5:n.739C>T
ENST00000470949.5:n.224C>T
ENST00000481736.5:n.683C>T
ENST00000486382.1:n.380C>T
ENST00000617979.4:c.279C>T ENSP00000483375.1:p.Ala93=
NM_000403.3:c.279C>T NP_000394.2:p.Ala93=
NM_001008216.1:c.279C>T NP_001008217.1:p.Ala93=
NM_001127621.1:c.279C>T NP_001121093.1:p.Ala93=
NM_001008216.2:c.279C>T MANE Select NP_001008217.1:p.Ala93=
NM_000403.4:c.279C>T NP_000394.2:p.Ala93=
NM_001127621.2:c.279C>T NP_001121093.1:p.Ala93=