Canonical Allele Identifier: CA8771115

Gene: GALK1

Linked Data

• dbSNP Id: rs775058415
• ExAC: 17:73760942 C / G
• gnomAD v2: 17-73760942-C-G
• gnomAD v3: 17-75764861-C-G
• gnomAD v4: 17-75764861-C-G
• MyVariant Identifiers: chr17:g.73760942C>G (hg19) ; chr17:g.75764861C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75764861C>G , CM000679.2:g.75764861C>G	GRCh38
NC_000017.10:g.73760942C>G , CM000679.1:g.73760942C>G	GRCh37
NC_000017.9:g.71272537C>G	NCBI36
NG_008079.1:g.5339G>C
NG_008079.2:g.5339G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587707.2:c.165+111G>C	ENSP00000468341.2:n.165+111G>C
ENST00000592997.6:c.165+111G>C	ENSP00000464765.2:n.165+111G>C
ENST00000588479.6:c.165+111G>C MANE Select	ENSP00000465930.1:n.165+111G>C
ENST00000225614.6:c.165+111G>C	ENSP00000225614.1:n.165+111G>C
ENST00000586244.1:c.165+111G>C	ENSP00000468288.1:n.165+111G>C
ENST00000588479.5:c.165+111G>C	ENSP00000465930.1:n.165+111G>C
ENST00000589030.1:n.162+111G>C
ENST00000592494.1:n.186+111G>C
NM_000154.1:c.165+111G>C	NP_000145.1:n.165+111G>C
NM_000154.2:c.165+111G>C MANE Select	NP_000145.1:n.165+111G>C
NM_001381985.1:c.165+111G>C	NP_001368914.1:n.165+111G>C