Canonical Allele Identifier: CA220712

Gene: GALE

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796227C>T , CM000663.2:g.23796227C>T	GRCh38
NC_000001.10:g.24122717C>T , CM000663.1:g.24122717C>T	GRCh37
NC_000001.9:g.23995304C>T	NCBI36
NG_007068.1:g.9578G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.912G>A MANE Select	ENSP00000483375.1:p.Val304=
ENST00000374497.7:c.912G>A	ENSP00000363621.3:p.Val304=
ENST00000429356.5:c.642G>A	ENSP00000398585.1:p.Val214=
ENST00000456977.5:c.192G>A	ENSP00000397045.1:p.Val64=
ENST00000459934.5:n.1140G>A
ENST00000469556.1:n.659G>A
ENST00000481736.5:n.1316G>A
ENST00000617979.4:c.912G>A	ENSP00000483375.1:p.Val304=
NM_000403.3:c.912G>A	NP_000394.2:p.Val304=
NM_001008216.1:c.912G>A	NP_001008217.1:p.Val304=
NM_001127621.1:c.912G>A	NP_001121093.1:p.Val304=
NM_001008216.2:c.912G>A MANE Select	NP_001008217.1:p.Val304=
NM_000403.4:c.912G>A	NP_000394.2:p.Val304=
NM_001127621.2:c.912G>A	NP_001121093.1:p.Val304=