Canonical Allele Identifier: CA8770956

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75763379A>G , CM000679.2:g.75763379A>G	GRCh38
NC_000017.10:g.73759460A>G , CM000679.1:g.73759460A>G	GRCh37
NC_000017.9:g.71271055A>G	NCBI36
NG_008079.1:g.6821T>C
NG_008079.2:g.6821T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.416T>C MANE Select	NP_000145.1:p.Leu139Pro
ENST00000588479.6:c.416T>C MANE Select	ENSP00000465930.1:p.Leu139Pro
NM_000154.1:c.416T>C	NP_000145.1:p.Leu139Pro
NM_001381985.1:c.416T>C	NP_001368914.1:p.Leu139Pro
ENST00000225614.6:c.416T>C	ENSP00000225614.1:p.Leu139Pro
ENST00000586244.1:c.*140T>C	ENSP00000468288.1:n.*140T>C
ENST00000587707.1:c.170T>C	ENSP00000468341.1:p.Leu57Pro
ENST00000587707.2:c.416T>C	ENSP00000468341.2:p.Leu139Pro
ENST00000588479.5:c.416T>C	ENSP00000465930.1:p.Leu139Pro
ENST00000592494.1:n.437T>C
ENST00000592997.6:c.416T>C	ENSP00000464765.2:p.Leu139Pro