Canonical Allele Identifier: CA521645327
Gene: GALE HGNC NCBI

Linked Data

dbSNP Id: rs1322820599
gnomAD v2: 1-24124841-C-T
gnomAD v3: 1-23798351-C-T
gnomAD v4: 1-23798351-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23798351C>T , CM000663.2:g.23798351C>T GRCh38
NC_000001.10:g.24124841C>T , CM000663.1:g.24124841C>T GRCh37
NC_000001.9:g.23997428C>T NCBI36
NG_007068.1:g.7454G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617979.5:c.238-121G>A MANE Select ENSP00000483375.1:n.238-121G>A
ENST00000374497.7:c.238-121G>A ENSP00000363621.3:n.238-121G>A
ENST00000418277.5:c.46-121G>A ENSP00000414719.1:n.46-121G>A
ENST00000425913.5:c.238-121G>A ENSP00000393359.1:n.238-121G>A
ENST00000429356.5:c.46-121G>A ENSP00000398585.1:n.46-121G>A
ENST00000445705.1:c.238-121G>A ENSP00000398257.1:n.238-121G>A
ENST00000459934.5:n.356-121G>A
ENST00000467493.5:n.577G>A
ENST00000470383.1:n.2049G>A
ENST00000470949.5:n.188-126G>A
ENST00000481736.5:n.521G>A
ENST00000486382.1:n.344-126G>A
ENST00000617979.4:c.238-121G>A ENSP00000483375.1:n.238-121G>A
NM_000403.3:c.238-121G>A NP_000394.2:n.238-121G>A
NM_001008216.1:c.238-121G>A NP_001008217.1:n.238-121G>A
NM_001127621.1:c.238-121G>A NP_001121093.1:n.238-121G>A
NM_001008216.2:c.238-121G>A MANE Select NP_001008217.1:n.238-121G>A
NM_000403.4:c.238-121G>A NP_000394.2:n.238-121G>A
NM_001127621.2:c.238-121G>A NP_001121093.1:n.238-121G>A