Canonical Allele Identifier: CA2592113549

Gene: CKMT1B STRC

Linked Data

• gnomAD v3: 15-43599447-A-C
• gnomAD v4: 15-43599447-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599447A>C , CM000677.2:g.43599447A>C	GRCh38
NC_000015.9:g.43891645A>C , CM000677.1:g.43891645A>C	GRCh37
NC_000015.8:g.41678937A>C	NCBI36
NG_011636.1:g.24354T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411560.1:n.56A>C (CKMT1B)
ENST00000450892.6:c.*225T>G (STRC)	ENSP00000401513.2:n.*225T>G
XM_011521277.1:c.*225T>G (STRC)	XP_011519579.1:n.*225T>G
XM_011521278.1:c.*225T>G (STRC)	XP_011519580.1:n.*225T>G
XM_011521279.1:c.*225T>G (STRC)	XP_011519581.1:n.*225T>G