Canonical Allele Identifier: CA2628140816

Gene: CKMT1B STRC

Linked Data

• gnomAD v4: 15-43599521-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599521C>G , CM000677.2:g.43599521C>G	GRCh38
NC_000015.9:g.43891719C>G , CM000677.1:g.43891719C>G	GRCh37
NC_000015.8:g.41679011C>G	NCBI36
NG_011636.1:g.24280G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411560.1:n.130C>G (CKMT1B)
ENST00000450892.6:c.*151G>C (STRC)	ENSP00000401513.2:n.*151G>C
XM_011521277.1:c.*151G>C (STRC)	XP_011519579.1:n.*151G>C
XM_011521278.1:c.*151G>C (STRC)	XP_011519580.1:n.*151G>C
XM_011521279.1:c.*151G>C (STRC)	XP_011519581.1:n.*151G>C