Canonical Allele Identifier: CA617656896

Gene: CKMT1B STRC

Linked Data

• dbSNP Id: rs1387479572
• gnomAD v2: 15-43891652-A-G
• gnomAD v3: 15-43599454-A-G
• gnomAD v4: 15-43599454-A-G
• MyVariant Identifiers: chr15:g.43891652A>G (hg19) ; chr15:g.43599454A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599454A>G , CM000677.2:g.43599454A>G	GRCh38
NC_000015.9:g.43891652A>G , CM000677.1:g.43891652A>G	GRCh37
NC_000015.8:g.41678944A>G	NCBI36
NG_011636.1:g.24347T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411560.1:n.63A>G (CKMT1B)
ENST00000450892.6:c.*218T>C (STRC)	ENSP00000401513.2:n.*218T>C
XM_011521277.1:c.*218T>C (STRC)	XP_011519579.1:n.*218T>C
XM_011521278.1:c.*218T>C (STRC)	XP_011519580.1:n.*218T>C
XM_011521279.1:c.*218T>C (STRC)	XP_011519581.1:n.*218T>C