Canonical Allele Identifier: CA2576392102

Gene: GALK1

Linked Data

• gnomAD v4: 17-75758018-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75758018G>A , CM000679.2:g.75758018G>A	GRCh38
NC_000017.10:g.73754099G>A , CM000679.1:g.73754099G>A	GRCh37
NC_000017.9:g.71265694G>A	NCBI36
NG_007372.1:g.41584G>A
NG_008079.1:g.12182C>T
NG_008079.2:g.12182C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592997.6:c.1127C>T	ENSP00000464765.2:n.1127C>T
ENST00000588479.6:c.*38C>T MANE Select	ENSP00000465930.1:n.*38C>T
ENST00000225614.6:c.*22+16C>T	ENSP00000225614.1:n.*22+16C>T
ENST00000586733.1:n.419C>T
ENST00000588479.5:c.*38C>T	ENSP00000465930.1:n.*38C>T
ENST00000589643.1:n.254+16C>T
ENST00000592997.5:c.593C>T	ENSP00000464765.1:n.593C>T
NM_000154.1:c.*38C>T	NP_000145.1:n.*38C>T
NM_000154.2:c.*38C>T MANE Select	NP_000145.1:n.*38C>T
NM_001381985.1:c.*22+16C>T	NP_001368914.1:n.*22+16C>T