Canonical Allele Identifier: CA10628299

Gene: AGK

Linked Data

• ClinVar Variation Id: 359052
• ClinVar RCV Id: RCV000324959 ; RCV000381866 ; RCV003422352
• dbSNP Id: rs552726046
• gnomAD v2: 7-141251149-G-A
• gnomAD v3: 7-141551349-G-A
• gnomAD v4: 7-141551349-G-A
• MyVariant Identifiers: chr7:g.141251149G>A (hg19) ; chr7:g.141551349G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.141551349G>A , CM000669.2:g.141551349G>A	GRCh38
NC_000007.13:g.141251149G>A , CM000669.1:g.141251149G>A	GRCh37
NC_000007.12:g.140897618G>A	NCBI36
NG_032079.1:g.5072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355413.8:c.-100G>A	ENSP00000347581.4:n.-100G>A
ENST00000629555.2:c.-100G>A	ENSP00000487274.1:n.-100G>A
NM_018238.3:c.-100G>A	NP_060708.1:n.-100G>A