Canonical Allele Identifier: CA401102571

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75762702A>C , CM000679.2:g.75762702A>C	GRCh38
NC_000017.10:g.73758783A>C , CM000679.1:g.73758783A>C	GRCh37
NC_000017.9:g.71270378A>C	NCBI36
NG_008079.1:g.7498T>G
NG_008079.2:g.7498T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.793+2T>G MANE Select	NP_000145.1:n.793+2T>G
ENST00000588479.6:c.793+2T>G MANE Select	ENSP00000465930.1:n.793+2T>G
NM_000154.1:c.793+2T>G	NP_000145.1:n.793+2T>G
NM_001381985.1:c.793+2T>G	NP_001368914.1:n.793+2T>G
ENST00000225614.6:c.793+2T>G	ENSP00000225614.1:n.793+2T>G
ENST00000587707.1:c.579+2T>G	ENSP00000468341.1:n.579+2T>G
ENST00000587707.2:c.825+2T>G	ENSP00000468341.2:n.825+2T>G
ENST00000588479.5:c.793+2T>G	ENSP00000465930.1:n.793+2T>G
ENST00000592494.1:n.1112+2T>G
ENST00000592997.5:c.169+2T>G	ENSP00000464765.1:n.169+2T>G
ENST00000592997.6:c.703+2T>G	ENSP00000464765.2:n.703+2T>G