Canonical Allele Identifier: CA401097714

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75758085C>G , CM000679.2:g.75758085C>G	GRCh38
NC_000017.10:g.73754166C>G , CM000679.1:g.73754166C>G	GRCh37
NC_000017.9:g.71265761C>G	NCBI36
NG_007372.1:g.41651C>G
NG_008079.1:g.12115G>C
NG_008079.2:g.12115G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.1150G>C MANE Select	NP_000145.1:p.Ala384Pro
ENST00000588479.6:c.1150G>C MANE Select	ENSP00000465930.1:p.Ala384Pro
NM_000154.1:c.1150G>C	NP_000145.1:p.Ala384Pro
NM_001381985.1:c.1150G>C	NP_001368914.1:p.Ala384Pro
ENST00000225614.6:c.1150G>C	ENSP00000225614.1:p.Ala384Pro
ENST00000586733.1:n.352G>C
ENST00000588479.5:c.1150G>C	ENSP00000465930.1:p.Ala384Pro
ENST00000589643.1:n.203G>C
ENST00000592997.5:c.526G>C	ENSP00000464765.1:p.Ala176Pro
ENST00000592997.6:c.1060G>C	ENSP00000464765.2:p.Ala354Pro