Canonical Allele Identifier: CA401104245

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75763045G>A , CM000679.2:g.75763045G>A	GRCh38
NC_000017.10:g.73759126G>A , CM000679.1:g.73759126G>A	GRCh37
NC_000017.9:g.71270721G>A	NCBI36
NG_008079.1:g.7155C>T
NG_008079.2:g.7155C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.580C>T MANE Select	NP_000145.1:p.Gln194Ter
ENST00000588479.6:c.580C>T MANE Select	ENSP00000465930.1:p.Gln194Ter
NM_000154.1:c.580C>T	NP_000145.1:p.Gln194Ter
NM_001381985.1:c.580C>T	NP_001368914.1:p.Gln194Ter
ENST00000225614.6:c.580C>T	ENSP00000225614.1:p.Gln194Ter
ENST00000586244.1:c.*474C>T	ENSP00000468288.1:n.*474C>T
ENST00000587707.1:c.366C>T	ENSP00000468341.1:n.366C>T
ENST00000587707.2:c.612C>T	ENSP00000468341.2:n.612C>T
ENST00000588479.5:c.580C>T	ENSP00000465930.1:p.Gln194Ter
ENST00000592494.1:n.771C>T
ENST00000592997.5:c.46C>T	ENSP00000464765.1:p.Gln16Ter
ENST00000592997.6:c.580C>T	ENSP00000464765.2:p.Gln194Ter