Canonical Allele Identifier: CA2173247681

Gene: CKMT1B STRC

Linked Data

• dbSNP Id: rs1416321782
• gnomAD v4: 15-43599433-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599433G>T , CM000677.2:g.43599433G>T	GRCh38
NC_000015.9:g.43891631G>T , CM000677.1:g.43891631G>T	GRCh37
NC_000015.8:g.41678923G>T	NCBI36
NG_011636.1:g.24368C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411560.1:n.42G>T (CKMT1B)
ENST00000450892.6:c.*239C>A (STRC)	ENSP00000401513.2:n.*239C>A
XM_011521277.1:c.*239C>A (STRC)	XP_011519579.1:n.*239C>A
XM_011521278.1:c.*239C>A (STRC)	XP_011519580.1:n.*239C>A
XM_011521279.1:c.*239C>A (STRC)	XP_011519581.1:n.*239C>A