Canonical Allele Identifier: CA401098266

Gene: GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75758212G>A , CM000679.2:g.75758212G>A	GRCh38
NC_000017.10:g.73754293G>A , CM000679.1:g.73754293G>A	GRCh37
NC_000017.9:g.71265888G>A	NCBI36
NG_007372.1:g.41778G>A
NG_008079.1:g.11988C>T
NG_008079.2:g.11988C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000154.2:c.1105C>T MANE Select	NP_000145.1:p.Gln369Ter
ENST00000588479.6:c.1105C>T MANE Select	ENSP00000465930.1:p.Gln369Ter
NM_000154.1:c.1105C>T	NP_000145.1:p.Gln369Ter
NM_001381985.1:c.1105C>T	NP_001368914.1:p.Gln369Ter
ENST00000225614.6:c.1105C>T	ENSP00000225614.1:p.Gln369Ter
ENST00000586733.1:n.307C>T
ENST00000588479.5:c.1105C>T	ENSP00000465930.1:p.Gln369Ter
ENST00000589643.1:n.161-85C>T
ENST00000592997.5:c.481C>T	ENSP00000464765.1:p.Gln161Ter
ENST00000592997.6:c.1015C>T	ENSP00000464765.2:p.Gln339Ter