Canonical Allele Identifier: CA733287679
Gene: GALE HGNC NCBI

Linked Data

dbSNP Id: rs1389850501
gnomAD v3: 1-23798314-T-A
gnomAD v4: 1-23798314-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23798314T>A , CM000663.2:g.23798314T>A GRCh38
NC_000001.10:g.24124804T>A , CM000663.1:g.24124804T>A GRCh37
NC_000001.9:g.23997391T>A NCBI36
NG_007068.1:g.7491A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617979.5:c.238-84A>T MANE Select ENSP00000483375.1:n.238-84A>T
ENST00000374497.7:c.238-84A>T ENSP00000363621.3:n.238-84A>T
ENST00000418277.5:c.46-84A>T ENSP00000414719.1:n.46-84A>T
ENST00000425913.5:c.238-84A>T ENSP00000393359.1:n.238-84A>T
ENST00000429356.5:c.46-84A>T ENSP00000398585.1:n.46-84A>T
ENST00000445705.1:c.238-84A>T ENSP00000398257.1:n.238-84A>T
ENST00000459934.5:n.356-84A>T
ENST00000467493.5:n.614A>T
ENST00000470949.5:n.188-89A>T
ENST00000481736.5:n.558A>T
ENST00000486382.1:n.344-89A>T
ENST00000617979.4:c.238-84A>T ENSP00000483375.1:n.238-84A>T
NM_000403.3:c.238-84A>T NP_000394.2:n.238-84A>T
NM_001008216.1:c.238-84A>T NP_001008217.1:n.238-84A>T
NM_001127621.1:c.238-84A>T NP_001121093.1:n.238-84A>T
NM_001008216.2:c.238-84A>T MANE Select NP_001008217.1:n.238-84A>T
NM_000403.4:c.238-84A>T NP_000394.2:n.238-84A>T
NM_001127621.2:c.238-84A>T NP_001121093.1:n.238-84A>T