Canonical Allele Identifier: CA401104605

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75763111G>A , CM000679.2:g.75763111G>A	GRCh38
NC_000017.10:g.73759192G>A , CM000679.1:g.73759192G>A	GRCh37
NC_000017.9:g.71270787G>A	NCBI36
NG_008079.1:g.7089C>T
NG_008079.2:g.7089C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.514C>T MANE Select	NP_000145.1:p.Gln172Ter
ENST00000588479.6:c.514C>T MANE Select	ENSP00000465930.1:p.Gln172Ter
NM_000154.1:c.514C>T	NP_000145.1:p.Gln172Ter
NM_001381985.1:c.514C>T	NP_001368914.1:p.Gln172Ter
ENST00000225614.6:c.514C>T	ENSP00000225614.1:p.Gln172Ter
ENST00000586244.1:c.*408C>T	ENSP00000468288.1:n.*408C>T
ENST00000587707.1:c.300C>T	ENSP00000468341.1:n.300C>T
ENST00000587707.2:c.546C>T	ENSP00000468341.2:n.546C>T
ENST00000588479.5:c.514C>T	ENSP00000465930.1:p.Gln172Ter
ENST00000592494.1:n.705C>T
ENST00000592997.6:c.514C>T	ENSP00000464765.2:p.Gln172Ter