Canonical Allele Identifier: CA401103985

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75762886C>A , CM000679.2:g.75762886C>A	GRCh38
NC_000017.10:g.73758967C>A , CM000679.1:g.73758967C>A	GRCh37
NC_000017.9:g.71270562C>A	NCBI36
NG_008079.1:g.7314G>T
NG_008079.2:g.7314G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.612-1G>T MANE Select	NP_000145.1:n.612-1G>T
ENST00000588479.6:c.612-1G>T MANE Select	ENSP00000465930.1:n.612-1G>T
NM_000154.1:c.612-1G>T	NP_000145.1:n.612-1G>T
NM_001381985.1:c.612-1G>T	NP_001368914.1:n.612-1G>T
ENST00000225614.6:c.612-1G>T	ENSP00000225614.1:n.612-1G>T
ENST00000586244.1:c.*633G>T	ENSP00000468288.1:n.*633G>T
ENST00000587707.1:c.398-1G>T	ENSP00000468341.1:n.398-1G>T
ENST00000587707.2:c.644-1G>T	ENSP00000468341.2:n.644-1G>T
ENST00000588479.5:c.612-1G>T	ENSP00000465930.1:n.612-1G>T
ENST00000592494.1:n.930G>T
ENST00000592997.5:c.78-91G>T	ENSP00000464765.1:n.78-91G>T
ENST00000592997.6:c.612-91G>T	ENSP00000464765.2:n.612-91G>T