Canonical Allele Identifier: CA2644079689
Gene: GALE HGNC NCBI

Linked Data

gnomAD v4: 1-23798428-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23798428C>T , CM000663.2:g.23798428C>T GRCh38
NC_000001.10:g.24124918C>T , CM000663.1:g.24124918C>T GRCh37
NC_000001.9:g.23997505C>T NCBI36
NG_007068.1:g.7377G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617979.5:c.237+187G>A MANE Select ENSP00000483375.1:n.237+187G>A
ENST00000374497.7:c.237+187G>A ENSP00000363621.3:n.237+187G>A
ENST00000418277.5:c.45+187G>A ENSP00000414719.1:n.45+187G>A
ENST00000425913.5:c.237+187G>A ENSP00000393359.1:n.237+187G>A
ENST00000429356.5:c.45+187G>A ENSP00000398585.1:n.45+187G>A
ENST00000445705.1:c.237+187G>A ENSP00000398257.1:n.237+187G>A
ENST00000459934.5:n.355+187G>A
ENST00000466250.5:n.550G>A
ENST00000467493.5:n.500G>A
ENST00000470383.1:n.1972G>A
ENST00000470949.5:n.187+187G>A
ENST00000481736.5:n.444G>A
ENST00000486382.1:n.343+187G>A
ENST00000617979.4:c.237+187G>A ENSP00000483375.1:n.237+187G>A
NM_000403.3:c.237+187G>A NP_000394.2:n.237+187G>A
NM_001008216.1:c.237+187G>A NP_001008217.1:n.237+187G>A
NM_001127621.1:c.237+187G>A NP_001121093.1:n.237+187G>A
NM_001008216.2:c.237+187G>A MANE Select NP_001008217.1:n.237+187G>A
NM_000403.4:c.237+187G>A NP_000394.2:n.237+187G>A
NM_001127621.2:c.237+187G>A NP_001121093.1:n.237+187G>A