Canonical Allele Identifier: CA340116

Gene: GALE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796722T>C , CM000663.2:g.23796722T>C	GRCh38
NC_000001.10:g.24123212T>C , CM000663.1:g.24123212T>C	GRCh37
NC_000001.9:g.23995799T>C	NCBI36
NG_007068.1:g.9083A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.770A>G MANE Select	ENSP00000483375.1:p.Lys257Arg
ENST00000374497.7:c.770A>G	ENSP00000363621.3:p.Lys257Arg
ENST00000418277.5:c.578A>G	ENSP00000414719.1:p.Lys193Arg
ENST00000429356.5:c.578A>G	ENSP00000398585.1:p.Lys193Arg
ENST00000456977.5:c.128A>G	ENSP00000397045.1:p.Lys43Arg
ENST00000459934.5:n.888A>G
ENST00000469556.1:n.164A>G
ENST00000481736.5:n.1174A>G
ENST00000617979.4:c.770A>G	ENSP00000483375.1:p.Lys257Arg
NM_000403.3:c.770A>G	NP_000394.2:p.Lys257Arg
NM_001008216.1:c.770A>G	NP_001008217.1:p.Lys257Arg
NM_001127621.1:c.770A>G	NP_001121093.1:p.Lys257Arg
NM_001008216.2:c.770A>G MANE Select	NP_001008217.1:p.Lys257Arg
NM_000403.4:c.770A>G	NP_000394.2:p.Lys257Arg
NM_001127621.2:c.770A>G	NP_001121093.1:p.Lys257Arg