Canonical Allele Identifier: CA2639885865

Gene: GALK1

Linked Data

• gnomAD v4: 17-75757992-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75757992G>A , CM000679.2:g.75757992G>A	GRCh38
NC_000017.10:g.73754073G>A , CM000679.1:g.73754073G>A	GRCh37
NC_000017.9:g.71265668G>A	NCBI36
NG_007372.1:g.41558G>A
NG_008079.1:g.12208C>T
NG_008079.2:g.12208C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592997.6:c.1153C>T	ENSP00000464765.2:n.1153C>T
ENST00000588479.6:c.*64C>T MANE Select	ENSP00000465930.1:n.*64C>T
ENST00000225614.6:c.*22+42C>T	ENSP00000225614.1:n.*22+42C>T
ENST00000586733.1:n.445C>T
ENST00000588479.5:c.*64C>T	ENSP00000465930.1:n.*64C>T
ENST00000589643.1:n.254+42C>T
ENST00000592997.5:c.619C>T	ENSP00000464765.1:n.619C>T
NM_000154.1:c.*64C>T	NP_000145.1:n.*64C>T
NM_000154.2:c.*64C>T MANE Select	NP_000145.1:n.*64C>T
NM_001381985.1:c.*22+42C>T	NP_001368914.1:n.*22+42C>T