Canonical Allele Identifier: CA8770832

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75762703C>A , CM000679.2:g.75762703C>A	GRCh38
NC_000017.10:g.73758784C>A , CM000679.1:g.73758784C>A	GRCh37
NC_000017.9:g.71270379C>A	NCBI36
NG_008079.1:g.7497G>T
NG_008079.2:g.7497G>T

Transcript Alleles

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