Canonical Allele Identifier: CA220711
Gene: GALE HGNC NCBI

Linked Data

ClinVar Variation Id: 92890
dbSNP Id: rs141022680
gnomAD v2: 1-24122979-G-A
gnomAD v3: 1-23796489-G-A
gnomAD v4: 1-23796489-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23796489G>A , CM000663.2:g.23796489G>A GRCh38
NC_000001.10:g.24122979G>A , CM000663.1:g.24122979G>A GRCh37
NC_000001.9:g.23995566G>A NCBI36
NG_007068.1:g.9316C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617979.5:c.873+20C>T MANE Select ENSP00000483375.1:n.873+20C>T
ENST00000374497.7:c.873+20C>T ENSP00000363621.3:n.873+20C>T
ENST00000429356.5:c.603+208C>T ENSP00000398585.1:n.603+208C>T
ENST00000456977.5:c.153+208C>T ENSP00000397045.1:n.153+208C>T
ENST00000459934.5:n.1101+20C>T
ENST00000469556.1:n.397C>T
ENST00000481736.5:n.1277+20C>T
ENST00000617979.4:c.873+20C>T ENSP00000483375.1:n.873+20C>T
NM_000403.3:c.873+20C>T NP_000394.2:n.873+20C>T
NM_001008216.1:c.873+20C>T NP_001008217.1:n.873+20C>T
NM_001127621.1:c.873+20C>T NP_001121093.1:n.873+20C>T
NM_001008216.2:c.873+20C>T MANE Select NP_001008217.1:n.873+20C>T
NM_000403.4:c.873+20C>T NP_000394.2:n.873+20C>T
NM_001127621.2:c.873+20C>T NP_001121093.1:n.873+20C>T