Canonical Allele Identifier: CA1158960758
Gene: GALE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23796577G= , CM000663.2:g.23796577G= GRCh38
NC_000001.10:g.24123067G= , CM000663.1:g.24123067G= GRCh37
NC_000001.9:g.23995654G= NCBI36
NG_007068.1:g.9228C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000617979.5:c.805C= MANE Select ENSP00000483375.1:p.Leu269=
ENST00000374497.7:c.805C= ENSP00000363621.3:p.Leu269=
ENST00000418277.5:c.613C= ENSP00000414719.1:p.Leu205=
ENST00000429356.5:c.603+120C= ENSP00000398585.1:n.603+120C=
ENST00000456977.5:c.153+120C= ENSP00000397045.1:n.153+120C=
ENST00000459934.5:n.1033C=
ENST00000469556.1:n.309C=
ENST00000481736.5:n.1209C=
ENST00000617979.4:c.805C= ENSP00000483375.1:p.Leu269=
NM_000403.3:c.805C= NP_000394.2:p.Leu269=
NM_001008216.1:c.805C= NP_001008217.1:p.Leu269=
NM_001127621.1:c.805C= NP_001121093.1:p.Leu269=
NM_001008216.2:c.805C= MANE Select NP_001008217.1:p.Leu269=
NM_000403.4:c.805C= NP_000394.2:p.Leu269=
NM_001127621.2:c.805C= NP_001121093.1:p.Leu269=