Canonical Allele Identifier: CA7527776

Linked Data

dbSNP Id: rs781764136

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599964C>G , CM000677.2:g.43599964C>G GRCh38
NC_000015.9:g.43892162C>G , CM000677.1:g.43892162C>G GRCh37
NC_000015.8:g.41679454C>G NCBI36
NG_011636.1:g.23837G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5235G>C (STRC) MANE Select ENSP00000401513.2:p.Gln1745His
ENST00000411560.1:n.142+431C>G (CKMT1B)
ENST00000428650.5:c.*2268G>C (STRC) ENSP00000415991.1:n.*2268G>C
ENST00000440125.5:c.*3027G>C (STRC) ENSP00000394866.1:n.*3027G>C
ENST00000448437.6:n.2355G>C (STRC)
ENST00000450892.6:c.5235G>C (STRC) ENSP00000401513.2:p.Gln1745His
ENST00000471703.5:n.3189G>C (STRC)
ENST00000485556.5:n.4090G>C (STRC)
ENST00000541030.5:c.2916G>C (STRC) ENSP00000440413.1:p.Gln972His
NM_153700.2:c.5235G>C (STRC) MANE Select NP_714544.1:p.Gln1745His
XM_011521277.1:c.5724G>C (STRC) XP_011519579.1:p.Gln1908His
XM_011521278.1:c.5340G>C (STRC) XP_011519580.1:p.Gln1780His
XM_011521279.1:c.5340G>C (STRC) XP_011519581.1:p.Gln1780His