Canonical Allele Identifier: CA401110007

Gene: GALK1

Linked Data

• MyVariant Identifiers: chr17:g.73761148A>G (hg19) ; chr17:g.75765067A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75765067A>G , CM000679.2:g.75765067A>G	GRCh38
NC_000017.10:g.73761148A>G , CM000679.1:g.73761148A>G	GRCh37
NC_000017.9:g.71272743A>G	NCBI36
NG_008079.1:g.5133T>C
NG_008079.2:g.5133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587707.2:c.70T>C	ENSP00000468341.2:p.Phe24Leu
ENST00000592997.6:c.70T>C	ENSP00000464765.2:p.Phe24Leu
ENST00000588479.6:c.70T>C MANE Select	ENSP00000465930.1:p.Phe24Leu
ENST00000225614.6:c.70T>C	ENSP00000225614.1:p.Phe24Leu
ENST00000586244.1:c.70T>C	ENSP00000468288.1:p.Phe24Leu
ENST00000588479.5:c.70T>C	ENSP00000465930.1:p.Phe24Leu
ENST00000589030.1:n.67T>C
ENST00000592494.1:n.91T>C
NM_000154.1:c.70T>C	NP_000145.1:p.Phe24Leu
NM_000154.2:c.70T>C MANE Select	NP_000145.1:p.Phe24Leu
NM_001381985.1:c.70T>C	NP_001368914.1:p.Phe24Leu