Canonical Allele Identifier: CA617656890

Gene: CKMT1B STRC

Linked Data

• dbSNP Id: rs1475824720
• gnomAD v2: 15-43891624-A-G
• gnomAD v3: 15-43599426-A-G
• gnomAD v4: 15-43599426-A-G
• MyVariant Identifiers: chr15:g.43891624A>G (hg19) ; chr15:g.43599426A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599426A>G , CM000677.2:g.43599426A>G	GRCh38
NC_000015.9:g.43891624A>G , CM000677.1:g.43891624A>G	GRCh37
NC_000015.8:g.41678916A>G	NCBI36
NG_011636.1:g.24375T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411560.1:n.35A>G (CKMT1B)
ENST00000450892.6:c.*246T>C (STRC)	ENSP00000401513.2:n.*246T>C
XM_011521277.1:c.*246T>C (STRC)	XP_011519579.1:n.*246T>C
XM_011521278.1:c.*246T>C (STRC)	XP_011519580.1:n.*246T>C
XM_011521279.1:c.*246T>C (STRC)	XP_011519581.1:n.*246T>C