Canonical Allele Identifier: CA775095894

Gene: GALK1

Linked Data

• dbSNP Id: rs1317386858
• gnomAD v3: 17-75758001-C-T
• gnomAD v4: 17-75758001-C-T
• MyVariant Identifiers: chr17:g.73754082C>T (hg19) ; chr17:g.75758001C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75758001C>T , CM000679.2:g.75758001C>T	GRCh38
NC_000017.10:g.73754082C>T , CM000679.1:g.73754082C>T	GRCh37
NC_000017.9:g.71265677C>T	NCBI36
NG_007372.1:g.41567C>T
NG_008079.1:g.12199G>A
NG_008079.2:g.12199G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000592997.6:c.1144G>A	ENSP00000464765.2:n.1144G>A
ENST00000588479.6:c.*55G>A MANE Select	ENSP00000465930.1:n.*55G>A
ENST00000225614.6:c.*22+33G>A	ENSP00000225614.1:n.*22+33G>A
ENST00000586733.1:n.436G>A
ENST00000588479.5:c.*55G>A	ENSP00000465930.1:n.*55G>A
ENST00000589643.1:n.254+33G>A
ENST00000592997.5:c.610G>A	ENSP00000464765.1:n.610G>A
NM_000154.1:c.*55G>A	NP_000145.1:n.*55G>A
NM_000154.2:c.*55G>A MANE Select	NP_000145.1:n.*55G>A
NM_001381985.1:c.*22+33G>A	NP_001368914.1:n.*22+33G>A