Canonical Allele Identifier: CA969211864

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs2085648817
• gnomAD v3: 15-43599590-C-G
• gnomAD v4: 15-43599590-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599590C>G , CM000677.2:g.43599590C>G	GRCh38
NC_000015.9:g.43891788C>G , CM000677.1:g.43891788C>G	GRCh37
NC_000015.8:g.41679080C>G	NCBI36
NG_011636.1:g.24211G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.*82G>C (STRC) MANE Select	ENSP00000401513.2:n.*82G>C
ENST00000411560.1:n.142+57C>G (CKMT1B)
ENST00000450892.6:c.*82G>C (STRC)	ENSP00000401513.2:n.*82G>C
ENST00000471703.5:n.3364G>C (STRC)
ENST00000541030.5:c.*82G>C (STRC)	ENSP00000440413.1:n.*82G>C
NM_153700.2:c.*82G>C (STRC) MANE Select	NP_714544.1:n.*82G>C
XM_011521277.1:c.*82G>C (STRC)	XP_011519579.1:n.*82G>C
XM_011521278.1:c.*82G>C (STRC)	XP_011519580.1:n.*82G>C
XM_011521279.1:c.*82G>C (STRC)	XP_011519581.1:n.*82G>C