Canonical Allele Identifier: CA116434
Gene: GALE HGNC NCBI

Linked Data

ClinVar Variation Id: 3682
dbSNP Id: rs121908047
gnomAD v2: 1-24124678-C-T
gnomAD v3: 1-23798188-C-T
gnomAD v4: 1-23798188-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23798188C>T , CM000663.2:g.23798188C>T GRCh38
NC_000001.10:g.24124678C>T , CM000663.1:g.24124678C>T GRCh37
NC_000001.9:g.23997265C>T NCBI36
NG_007068.1:g.7617G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000617979.5:c.280G>A MANE Select ENSP00000483375.1:p.Val94Met
ENST00000374497.7:c.280G>A ENSP00000363621.3:p.Val94Met
ENST00000418277.5:c.88G>A ENSP00000414719.1:p.Val30Met
ENST00000425913.5:c.280G>A ENSP00000393359.1:p.Val94Met
ENST00000429356.5:c.88G>A ENSP00000398585.1:p.Val30Met
ENST00000445705.1:c.280G>A ENSP00000398257.1:p.Val94Met
ENST00000459934.5:n.398G>A
ENST00000467493.5:n.740G>A
ENST00000470949.5:n.225G>A
ENST00000481736.5:n.684G>A
ENST00000486382.1:n.381G>A
ENST00000617979.4:c.280G>A ENSP00000483375.1:p.Val94Met
NM_000403.3:c.280G>A NP_000394.2:p.Val94Met
NM_001008216.1:c.280G>A NP_001008217.1:p.Val94Met
NM_001127621.1:c.280G>A NP_001121093.1:p.Val94Met
NM_001008216.2:c.280G>A MANE Select NP_001008217.1:p.Val94Met
NM_000403.4:c.280G>A NP_000394.2:p.Val94Met
NM_001127621.2:c.280G>A NP_001121093.1:p.Val94Met