Canonical Allele Identifier: CA339006883

Gene: GALE

Linked Data

• dbSNP Id: rs1638963097
• MyVariant Identifiers: chr1:g.24123075A>G (hg19) ; chr1:g.23796585A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796585A>G , CM000663.2:g.23796585A>G	GRCh38
NC_000001.10:g.24123075A>G , CM000663.1:g.24123075A>G	GRCh37
NC_000001.9:g.23995662A>G	NCBI36
NG_007068.1:g.9220T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.797T>C MANE Select	ENSP00000483375.1:p.Ile266Thr
ENST00000374497.7:c.797T>C	ENSP00000363621.3:p.Ile266Thr
ENST00000418277.5:c.605T>C	ENSP00000414719.1:p.Ile202Thr
ENST00000429356.5:c.603+112T>C	ENSP00000398585.1:n.603+112T>C
ENST00000456977.5:c.153+112T>C	ENSP00000397045.1:n.153+112T>C
ENST00000459934.5:n.1025T>C
ENST00000469556.1:n.301T>C
ENST00000481736.5:n.1201T>C
ENST00000617979.4:c.797T>C	ENSP00000483375.1:p.Ile266Thr
NM_000403.3:c.797T>C	NP_000394.2:p.Ile266Thr
NM_001008216.1:c.797T>C	NP_001008217.1:p.Ile266Thr
NM_001127621.1:c.797T>C	NP_001121093.1:p.Ile266Thr
NM_001008216.2:c.797T>C MANE Select	NP_001008217.1:p.Ile266Thr
NM_000403.4:c.797T>C	NP_000394.2:p.Ile266Thr
NM_001127621.2:c.797T>C	NP_001121093.1:p.Ile266Thr