Canonical Allele Identifier: CA8770784

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75758448C>A , CM000679.2:g.75758448C>A	GRCh38
NC_000017.10:g.73754529C>A , CM000679.1:g.73754529C>A	GRCh37
NC_000017.9:g.71266124C>A	NCBI36
NG_007372.1:g.42014C>A
NG_008079.1:g.11752G>T
NG_008079.2:g.11752G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.944+1G>T MANE Select	NP_000145.1:n.944+1G>T
ENST00000588479.6:c.944+1G>T MANE Select	ENSP00000465930.1:n.944+1G>T
NM_000154.1:c.944+1G>T	NP_000145.1:n.944+1G>T
NM_001381985.1:c.944+1G>T	NP_001368914.1:n.944+1G>T
ENST00000225614.6:c.944+1G>T	ENSP00000225614.1:n.944+1G>T
ENST00000586733.1:n.71G>T
ENST00000588479.5:c.944+1G>T	ENSP00000465930.1:n.944+1G>T
ENST00000589643.1:n.72G>T
ENST00000592997.5:c.320+1G>T	ENSP00000464765.1:n.320+1G>T
ENST00000592997.6:c.854+1G>T	ENSP00000464765.2:n.854+1G>T