Canonical Allele Identifier: CA401107497

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75764047T>A , CM000679.2:g.75764047T>A	GRCh38
NC_000017.10:g.73760128T>A , CM000679.1:g.73760128T>A	GRCh37
NC_000017.9:g.71271723T>A	NCBI36
NG_008079.1:g.6153A>T
NG_008079.2:g.6153A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.205A>T MANE Select	NP_000145.1:p.Lys69Ter
ENST00000588479.6:c.205A>T MANE Select	ENSP00000465930.1:p.Lys69Ter
NM_000154.1:c.205A>T	NP_000145.1:p.Lys69Ter
NM_001381985.1:c.205A>T	NP_001368914.1:p.Lys69Ter
ENST00000225614.6:c.205A>T	ENSP00000225614.1:p.Lys69Ter
ENST00000586244.1:c.205A>T	ENSP00000468288.1:p.Lys69Ter
ENST00000587707.2:c.205A>T	ENSP00000468341.2:p.Lys69Ter
ENST00000588479.5:c.205A>T	ENSP00000465930.1:p.Lys69Ter
ENST00000589030.1:n.202A>T
ENST00000592494.1:n.226A>T
ENST00000592997.6:c.205A>T	ENSP00000464765.2:p.Lys69Ter