Canonical Allele Identifier: CA2639880885

Gene: GALK1

Linked Data

• gnomAD v4: 17-75762953-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75762953A>G , CM000679.2:g.75762953A>G	GRCh38
NC_000017.10:g.73759034A>G , CM000679.1:g.73759034A>G	GRCh37
NC_000017.9:g.71270629A>G	NCBI36
NG_008079.1:g.7247T>C
NG_008079.2:g.7247T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000587707.2:c.643+61T>C	ENSP00000468341.2:n.643+61T>C
ENST00000592997.6:c.611+61T>C	ENSP00000464765.2:n.611+61T>C
ENST00000588479.6:c.611+61T>C MANE Select	ENSP00000465930.1:n.611+61T>C
ENST00000225614.6:c.611+61T>C	ENSP00000225614.1:n.611+61T>C
ENST00000586244.1:c.*566T>C	ENSP00000468288.1:n.*566T>C
ENST00000587707.1:c.397+61T>C	ENSP00000468341.1:n.397+61T>C
ENST00000588479.5:c.611+61T>C	ENSP00000465930.1:n.611+61T>C
ENST00000592494.1:n.863T>C
ENST00000592997.5:c.77+61T>C	ENSP00000464765.1:n.77+61T>C
NM_000154.1:c.611+61T>C	NP_000145.1:n.611+61T>C
NM_000154.2:c.611+61T>C MANE Select	NP_000145.1:n.611+61T>C
NM_001381985.1:c.611+61T>C	NP_001368914.1:n.611+61T>C