Canonical Allele Identifier: CA270006958

Linked Data

dbSNP Id: rs1036037605

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599609C>T , CM000677.2:g.43599609C>T GRCh38
NC_000015.9:g.43891807C>T , CM000677.1:g.43891807C>T GRCh37
NC_000015.8:g.41679099C>T NCBI36
NG_011636.1:g.24192G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.*63G>A (STRC) MANE Select ENSP00000401513.2:n.*63G>A
ENST00000411560.1:n.142+76C>T (CKMT1B)
ENST00000448437.6:n.2511G>A (STRC)
ENST00000450892.6:c.*63G>A (STRC) ENSP00000401513.2:n.*63G>A
ENST00000471703.5:n.3345G>A (STRC)
ENST00000485556.5:n.4246G>A (STRC)
ENST00000541030.5:c.*63G>A (STRC) ENSP00000440413.1:n.*63G>A
NM_153700.2:c.*63G>A (STRC) MANE Select NP_714544.1:n.*63G>A
XM_011521277.1:c.*63G>A (STRC) XP_011519579.1:n.*63G>A
XM_011521278.1:c.*63G>A (STRC) XP_011519580.1:n.*63G>A
XM_011521279.1:c.*63G>A (STRC) XP_011519581.1:n.*63G>A