Canonical Allele Identifier: CA401100183

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75758525G>A , CM000679.2:g.75758525G>A	GRCh38
NC_000017.10:g.73754606G>A , CM000679.1:g.73754606G>A	GRCh37
NC_000017.9:g.71266201G>A	NCBI36
NG_007372.1:g.42091G>A
NG_008079.1:g.11675C>T
NG_008079.2:g.11675C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.868C>T MANE Select	NP_000145.1:p.Gln290Ter
ENST00000588479.6:c.868C>T MANE Select	ENSP00000465930.1:p.Gln290Ter
NM_000154.1:c.868C>T	NP_000145.1:p.Gln290Ter
NM_001381985.1:c.868C>T	NP_001368914.1:p.Gln290Ter
ENST00000225614.6:c.868C>T	ENSP00000225614.1:p.Gln290Ter
ENST00000587707.1:c.654C>T	ENSP00000468341.1:n.654C>T
ENST00000587707.2:c.900C>T	ENSP00000468341.2:n.900C>T
ENST00000588479.5:c.868C>T	ENSP00000465930.1:p.Gln290Ter
ENST00000592997.5:c.244C>T	ENSP00000464765.1:p.Gln82Ter
ENST00000592997.6:c.778C>T	ENSP00000464765.2:p.Gln260Ter