Canonical Allele Identifier: CA8770804

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75758529C>G , CM000679.2:g.75758529C>G	GRCh38
NC_000017.10:g.73754610C>G , CM000679.1:g.73754610C>G	GRCh37
NC_000017.9:g.71266205C>G	NCBI36
NG_007372.1:g.42095C>G
NG_008079.1:g.11671G>C
NG_008079.2:g.11671G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.864G>C MANE Select	NP_000145.1:p.Thr288=
ENST00000588479.6:c.864G>C MANE Select	ENSP00000465930.1:p.Thr288=
NM_000154.1:c.864G>C	NP_000145.1:p.Thr288=
NM_001381985.1:c.864G>C	NP_001368914.1:p.Thr288=
ENST00000225614.6:c.864G>C	ENSP00000225614.1:p.Thr288=
ENST00000587707.1:c.650G>C	ENSP00000468341.1:n.650G>C
ENST00000587707.2:c.896G>C	ENSP00000468341.2:n.896G>C
ENST00000588479.5:c.864G>C	ENSP00000465930.1:p.Thr288=
ENST00000592997.5:c.240G>C	ENSP00000464765.1:p.Thr80=
ENST00000592997.6:c.774G>C	ENSP00000464765.2:p.Thr258=