Canonical Allele Identifier: CA8770760

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75758286G>A , CM000679.2:g.75758286G>A	GRCh38
NC_000017.10:g.73754367G>A , CM000679.1:g.73754367G>A	GRCh37
NC_000017.9:g.71265962G>A	NCBI36
NG_007372.1:g.41852G>A
NG_008079.1:g.11914C>T
NG_008079.2:g.11914C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.1031C>T MANE Select	NP_000145.1:p.Thr344Met
ENST00000588479.6:c.1031C>T MANE Select	ENSP00000465930.1:p.Thr344Met
NM_000154.1:c.1031C>T	NP_000145.1:p.Thr344Met
NM_001381985.1:c.1031C>T	NP_001368914.1:p.Thr344Met
ENST00000225614.6:c.1031C>T	ENSP00000225614.1:p.Thr344Met
ENST00000586733.1:n.233C>T
ENST00000588479.5:c.1031C>T	ENSP00000465930.1:p.Thr344Met
ENST00000589643.1:n.160+74C>T
ENST00000592997.5:c.407C>T	ENSP00000464765.1:p.Thr136Met
ENST00000592997.6:c.941C>T	ENSP00000464765.2:p.Thr314Met