Canonical Allele Identifier: CA2173247730

Gene: CKMT1B STRC

Linked Data

• dbSNP Id: rs2085648598
• gnomAD v4: 15-43599561-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599561C>T , CM000677.2:g.43599561C>T	GRCh38
NC_000015.9:g.43891759C>T , CM000677.1:g.43891759C>T	GRCh37
NC_000015.8:g.41679051C>T	NCBI36
NG_011636.1:g.24240G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411560.1:n.142+28C>T (CKMT1B)
ENST00000450892.6:c.*111G>A (STRC)	ENSP00000401513.2:n.*111G>A
XM_011521277.1:c.*111G>A (STRC)	XP_011519579.1:n.*111G>A
XM_011521278.1:c.*111G>A (STRC)	XP_011519580.1:n.*111G>A
XM_011521279.1:c.*111G>A (STRC)	XP_011519581.1:n.*111G>A