Canonical Allele Identifier: CA969211868

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs2085649100
• gnomAD v3: 15-43599623-T-A
• gnomAD v4: 15-43599623-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599623T>A , CM000677.2:g.43599623T>A	GRCh38
NC_000015.9:g.43891821T>A , CM000677.1:g.43891821T>A	GRCh37
NC_000015.8:g.41679113T>A	NCBI36
NG_011636.1:g.24178A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.*49A>T (STRC) MANE Select	ENSP00000401513.2:n.*49A>T
ENST00000411560.1:n.142+90T>A (CKMT1B)
ENST00000448437.6:n.2497A>T (STRC)
ENST00000450892.6:c.*49A>T (STRC)	ENSP00000401513.2:n.*49A>T
ENST00000471703.5:n.3331A>T (STRC)
ENST00000485556.5:n.4232A>T (STRC)
ENST00000541030.5:c.*49A>T (STRC)	ENSP00000440413.1:n.*49A>T
NM_153700.2:c.*49A>T (STRC) MANE Select	NP_714544.1:n.*49A>T
XM_011521277.1:c.*49A>T (STRC)	XP_011519579.1:n.*49A>T
XM_011521278.1:c.*49A>T (STRC)	XP_011519580.1:n.*49A>T
XM_011521279.1:c.*49A>T (STRC)	XP_011519581.1:n.*49A>T