Canonical Allele Identifier: CA416614948

Gene: GALE

Linked Data

• MyVariant Identifiers: chr1:g.24123047A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796557A>G , CM000663.2:g.23796557A>G	GRCh38
NC_000001.10:g.24123047A>G , CM000663.1:g.24123047A>G	GRCh37
NC_000001.9:g.23995634A>G	NCBI36
NG_007068.1:g.9248T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.825T>C MANE Select	ENSP00000483375.1:p.Tyr275=
ENST00000374497.7:c.825T>C	ENSP00000363621.3:p.Tyr275=
ENST00000418277.5:c.633T>C	ENSP00000414719.1:p.Tyr211=
ENST00000429356.5:c.603+140T>C	ENSP00000398585.1:n.603+140T>C
ENST00000456977.5:c.153+140T>C	ENSP00000397045.1:n.153+140T>C
ENST00000459934.5:n.1053T>C
ENST00000469556.1:n.329T>C
ENST00000481736.5:n.1229T>C
ENST00000617979.4:c.825T>C	ENSP00000483375.1:p.Tyr275=
NM_000403.3:c.825T>C	NP_000394.2:p.Tyr275=
NM_001008216.1:c.825T>C	NP_001008217.1:p.Tyr275=
NM_001127621.1:c.825T>C	NP_001121093.1:p.Tyr275=
NM_001008216.2:c.825T>C MANE Select	NP_001008217.1:p.Tyr275=
NM_000403.4:c.825T>C	NP_000394.2:p.Tyr275=
NM_001127621.2:c.825T>C	NP_001121093.1:p.Tyr275=