Canonical Allele Identifier: CA713003467

Linked Data

dbSNP Id: rs1489345837

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599572T>C , CM000677.2:g.43599572T>C GRCh38
NC_000015.9:g.43891770T>C , CM000677.1:g.43891770T>C GRCh37
NC_000015.8:g.41679062T>C NCBI36
NG_011636.1:g.24229A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.*100A>G (STRC) MANE Select ENSP00000401513.2:n.*100A>G
ENST00000411560.1:n.142+39T>C (CKMT1B)
ENST00000450892.6:c.*100A>G (STRC) ENSP00000401513.2:n.*100A>G
ENST00000541030.5:c.*100A>G (STRC) ENSP00000440413.1:n.*100A>G
NM_153700.2:c.*100A>G (STRC) MANE Select NP_714544.1:n.*100A>G
XM_011521277.1:c.*100A>G (STRC) XP_011519579.1:n.*100A>G
XM_011521278.1:c.*100A>G (STRC) XP_011519580.1:n.*100A>G
XM_011521279.1:c.*100A>G (STRC) XP_011519581.1:n.*100A>G