Canonical Allele Identifier: CA969212071

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs2085656436
• gnomAD v3: 15-43600501-C-A
• gnomAD v4: 15-43600501-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43600501C>A , CM000677.2:g.43600501C>A	GRCh38
NC_000015.9:g.43892699C>A , CM000677.1:g.43892699C>A	GRCh37
NC_000015.8:g.41679991C>A	NCBI36
NG_011636.1:g.23300G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4993+33G>T (STRC) MANE Select	ENSP00000401513.2:n.4993+33G>T
ENST00000411560.1:n.142+968C>A (CKMT1B)
ENST00000428650.5:c.*2026+33G>T (STRC)	ENSP00000415991.1:n.*2026+33G>T
ENST00000440125.5:c.*2785+33G>T (STRC)	ENSP00000394866.1:n.*2785+33G>T
ENST00000448437.6:n.2113+33G>T (STRC)
ENST00000450892.6:c.4993+33G>T (STRC)	ENSP00000401513.2:n.4993+33G>T
ENST00000471703.5:n.2947+33G>T (STRC)
ENST00000485556.5:n.3848+33G>T (STRC)
ENST00000541030.5:c.2674+33G>T (STRC)	ENSP00000440413.1:n.2674+33G>T
NM_153700.2:c.4993+33G>T (STRC) MANE Select	NP_714544.1:n.4993+33G>T
XM_011521277.1:c.5482+33G>T (STRC)	XP_011519579.1:n.5482+33G>T
XM_011521278.1:c.5098+33G>T (STRC)	XP_011519580.1:n.5098+33G>T
XM_011521279.1:c.5098+33G>T (STRC)	XP_011519581.1:n.5098+33G>T