Canonical Allele Identifier: CA2525560890

Gene: CKMT1B STRC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599451T>C , CM000677.2:g.43599451T>C	GRCh38
NC_000015.9:g.43891649T>C , CM000677.1:g.43891649T>C	GRCh37
NC_000015.8:g.41678941T>C	NCBI36
NG_011636.1:g.24350A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411560.1:n.60T>C (CKMT1B)
ENST00000450892.6:c.*221A>G (STRC)	ENSP00000401513.2:n.*221A>G
XM_011521277.1:c.*221A>G (STRC)	XP_011519579.1:n.*221A>G
XM_011521278.1:c.*221A>G (STRC)	XP_011519580.1:n.*221A>G
XM_011521279.1:c.*221A>G (STRC)	XP_011519581.1:n.*221A>G