Canonical Allele Identifier: CA1158961341

Gene: GALE

Linked Data

• dbSNP Id: rs72872175
• gnomAD v4: 1-23798007-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23798007G>C , CM000663.2:g.23798007G>C	GRCh38
NC_000001.10:g.24124497G>C , CM000663.1:g.24124497G>C	GRCh37
NC_000001.9:g.23997084G>C	NCBI36
NG_007068.1:g.7798C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.351+110C>G MANE Select	ENSP00000483375.1:n.351+110C>G
ENST00000374497.7:c.351+110C>G	ENSP00000363621.3:n.351+110C>G
ENST00000418277.5:c.159+110C>G	ENSP00000414719.1:n.159+110C>G
ENST00000425913.5:c.351+110C>G	ENSP00000393359.1:n.351+110C>G
ENST00000429356.5:c.159+110C>G	ENSP00000398585.1:n.159+110C>G
ENST00000445705.1:c.351+110C>G	ENSP00000398257.1:n.351+110C>G
ENST00000459934.5:n.469+110C>G
ENST00000467493.5:n.811+110C>G
ENST00000470949.5:n.296+110C>G
ENST00000481736.5:n.755+110C>G
ENST00000617979.4:c.351+110C>G	ENSP00000483375.1:n.351+110C>G
NM_000403.3:c.351+110C>G	NP_000394.2:n.351+110C>G
NM_001008216.1:c.351+110C>G	NP_001008217.1:n.351+110C>G
NM_001127621.1:c.351+110C>G	NP_001121093.1:n.351+110C>G
NM_001008216.2:c.351+110C>G MANE Select	NP_001008217.1:n.351+110C>G
NM_000403.4:c.351+110C>G	NP_000394.2:n.351+110C>G
NM_001127621.2:c.351+110C>G	NP_001121093.1:n.351+110C>G