Canonical Allele Identifier: CA2173247677

Gene: CKMT1B STRC

Linked Data

• dbSNP Id: rs2085646222
• gnomAD v4: 15-43599430-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599430T>C , CM000677.2:g.43599430T>C	GRCh38
NC_000015.9:g.43891628T>C , CM000677.1:g.43891628T>C	GRCh37
NC_000015.8:g.41678920T>C	NCBI36
NG_011636.1:g.24371A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411560.1:n.39T>C (CKMT1B)
ENST00000450892.6:c.*242A>G (STRC)	ENSP00000401513.2:n.*242A>G
XM_011521277.1:c.*242A>G (STRC)	XP_011519579.1:n.*242A>G
XM_011521278.1:c.*242A>G (STRC)	XP_011519580.1:n.*242A>G
XM_011521279.1:c.*242A>G (STRC)	XP_011519581.1:n.*242A>G