Canonical Allele Identifier: CA2644078746
Gene: GALE HGNC NCBI

Linked Data

gnomAD v4: 1-23798048-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23798048C>A , CM000663.2:g.23798048C>A GRCh38
NC_000001.10:g.24124538C>A , CM000663.1:g.24124538C>A GRCh37
NC_000001.9:g.23997125C>A NCBI36
NG_007068.1:g.7757G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617979.5:c.351+69G>T MANE Select ENSP00000483375.1:n.351+69G>T
ENST00000374497.7:c.351+69G>T ENSP00000363621.3:n.351+69G>T
ENST00000418277.5:c.159+69G>T ENSP00000414719.1:n.159+69G>T
ENST00000425913.5:c.351+69G>T ENSP00000393359.1:n.351+69G>T
ENST00000429356.5:c.159+69G>T ENSP00000398585.1:n.159+69G>T
ENST00000445705.1:c.351+69G>T ENSP00000398257.1:n.351+69G>T
ENST00000459934.5:n.469+69G>T
ENST00000467493.5:n.811+69G>T
ENST00000470949.5:n.296+69G>T
ENST00000481736.5:n.755+69G>T
ENST00000617979.4:c.351+69G>T ENSP00000483375.1:n.351+69G>T
NM_000403.3:c.351+69G>T NP_000394.2:n.351+69G>T
NM_001008216.1:c.351+69G>T NP_001008217.1:n.351+69G>T
NM_001127621.1:c.351+69G>T NP_001121093.1:n.351+69G>T
NM_001008216.2:c.351+69G>T MANE Select NP_001008217.1:n.351+69G>T
NM_000403.4:c.351+69G>T NP_000394.2:n.351+69G>T
NM_001127621.2:c.351+69G>T NP_001121093.1:n.351+69G>T