Canonical Allele Identifier: CA401099454

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75758363A>T , CM000679.2:g.75758363A>T	GRCh38
NC_000017.10:g.73754444A>T , CM000679.1:g.73754444A>T	GRCh37
NC_000017.9:g.71266039A>T	NCBI36
NG_007372.1:g.41929A>T
NG_008079.1:g.11837T>A
NG_008079.2:g.11837T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.954T>A MANE Select	NP_000145.1:p.Tyr318Ter
ENST00000588479.6:c.954T>A MANE Select	ENSP00000465930.1:p.Tyr318Ter
NM_000154.1:c.954T>A	NP_000145.1:p.Tyr318Ter
NM_001381985.1:c.954T>A	NP_001368914.1:p.Tyr318Ter
ENST00000225614.6:c.954T>A	ENSP00000225614.1:p.Tyr318Ter
ENST00000586733.1:n.156T>A
ENST00000588479.5:c.954T>A	ENSP00000465930.1:p.Tyr318Ter
ENST00000589643.1:n.157T>A
ENST00000592997.5:c.330T>A	ENSP00000464765.1:p.Tyr110Ter
ENST00000592997.6:c.864T>A	ENSP00000464765.2:p.Tyr288Ter