Canonical Allele Identifier: CA2173247728

Gene: CKMT1B STRC

Linked Data

• dbSNP Id: rs2085648540
• gnomAD v4: 15-43599560-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599560C>T , CM000677.2:g.43599560C>T	GRCh38
NC_000015.9:g.43891758C>T , CM000677.1:g.43891758C>T	GRCh37
NC_000015.8:g.41679050C>T	NCBI36
NG_011636.1:g.24241G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411560.1:n.142+27C>T (CKMT1B)
ENST00000450892.6:c.*112G>A (STRC)	ENSP00000401513.2:n.*112G>A
XM_011521277.1:c.*112G>A (STRC)	XP_011519579.1:n.*112G>A
XM_011521278.1:c.*112G>A (STRC)	XP_011519580.1:n.*112G>A
XM_011521279.1:c.*112G>A (STRC)	XP_011519581.1:n.*112G>A