Canonical Allele Identifier: CA401108985

Gene: GALK1

Linked Data

• MyVariant Identifiers: chr17:g.73761051A>C (hg19) ; chr17:g.75764970A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75764970A>C , CM000679.2:g.75764970A>C	GRCh38
NC_000017.10:g.73761051A>C , CM000679.1:g.73761051A>C	GRCh37
NC_000017.9:g.71272646A>C	NCBI36
NG_008079.1:g.5230T>G
NG_008079.2:g.5230T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000587707.2:c.165+2T>G	ENSP00000468341.2:n.165+2T>G
ENST00000592997.6:c.165+2T>G	ENSP00000464765.2:n.165+2T>G
ENST00000588479.6:c.165+2T>G MANE Select	ENSP00000465930.1:n.165+2T>G
ENST00000225614.6:c.165+2T>G	ENSP00000225614.1:n.165+2T>G
ENST00000586244.1:c.165+2T>G	ENSP00000468288.1:n.165+2T>G
ENST00000588479.5:c.165+2T>G	ENSP00000465930.1:n.165+2T>G
ENST00000589030.1:n.162+2T>G
ENST00000592494.1:n.186+2T>G
NM_000154.1:c.165+2T>G	NP_000145.1:n.165+2T>G
NM_000154.2:c.165+2T>G MANE Select	NP_000145.1:n.165+2T>G
NM_001381985.1:c.165+2T>G	NP_001368914.1:n.165+2T>G