Canonical Allele Identifier: CA117658

Gene: GALK1

Linked Data

• ClinVar Variation Id: 5630
• ClinVar RCV Id: RCV000005984 ; RCV002262559
• dbSNP Id: rs104894572
• ExAC: 17:73761136 G / T
• gnomAD v2: 17-73761136-G-T
• gnomAD v4: 17-75765055-G-T
• MyVariant Identifiers: chr17:g.73761136G>T (hg19) ; chr17:g.75765055G>T (hg38)
• PubMed: PMID:10521295 ; PMID:10790206 ; PMID:15322984

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75765055G>T , CM000679.2:g.75765055G>T	GRCh38
NC_000017.10:g.73761136G>T , CM000679.1:g.73761136G>T	GRCh37
NC_000017.9:g.71272731G>T	NCBI36
NG_008079.1:g.5145C>A
NG_008079.2:g.5145C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587707.2:c.82C>A	ENSP00000468341.2:p.Pro28Thr
ENST00000592997.6:c.82C>A	ENSP00000464765.2:p.Pro28Thr
ENST00000588479.6:c.82C>A MANE Select	ENSP00000465930.1:p.Pro28Thr
ENST00000225614.6:c.82C>A	ENSP00000225614.1:p.Pro28Thr
ENST00000586244.1:c.82C>A	ENSP00000468288.1:p.Pro28Thr
ENST00000588479.5:c.82C>A	ENSP00000465930.1:p.Pro28Thr
ENST00000589030.1:n.79C>A
ENST00000592494.1:n.103C>A
NM_000154.1:c.82C>A	NP_000145.1:p.Pro28Thr
NM_000154.2:c.82C>A MANE Select	NP_000145.1:p.Pro28Thr
NM_001381985.1:c.82C>A	NP_001368914.1:p.Pro28Thr