Canonical Allele Identifier: CA339006562

Gene: GALE

Linked Data

• MyVariant Identifiers: chr1:g.24123000T>G (hg19) ; chr1:g.23796510T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23796510T>G , CM000663.2:g.23796510T>G	GRCh38
NC_000001.10:g.24123000T>G , CM000663.1:g.24123000T>G	GRCh37
NC_000001.9:g.23995587T>G	NCBI36
NG_007068.1:g.9295A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617979.5:c.872A>C MANE Select	ENSP00000483375.1:p.Lys291Thr
ENST00000374497.7:c.872A>C	ENSP00000363621.3:p.Lys291Thr
ENST00000418277.5:c.680A>C	ENSP00000414719.1:p.Lys227Thr
ENST00000429356.5:c.603+187A>C	ENSP00000398585.1:n.603+187A>C
ENST00000456977.5:c.153+187A>C	ENSP00000397045.1:n.153+187A>C
ENST00000459934.5:n.1100A>C
ENST00000469556.1:n.376A>C
ENST00000481736.5:n.1276A>C
ENST00000617979.4:c.872A>C	ENSP00000483375.1:p.Lys291Thr
NM_000403.3:c.872A>C	NP_000394.2:p.Lys291Thr
NM_001008216.1:c.872A>C	NP_001008217.1:p.Lys291Thr
NM_001127621.1:c.872A>C	NP_001121093.1:p.Lys291Thr
NM_001008216.2:c.872A>C MANE Select	NP_001008217.1:p.Lys291Thr
NM_000403.4:c.872A>C	NP_000394.2:p.Lys291Thr
NM_001127621.2:c.872A>C	NP_001121093.1:p.Lys291Thr