Canonical Allele Identifier: CA2803948538

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600472T>C , CM000677.2:g.43600472T>C GRCh38
NC_000015.9:g.43892670T>C , CM000677.1:g.43892670T>C GRCh37
NC_000015.8:g.41679962T>C NCBI36
NG_011636.1:g.23329A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4993+62A>G (STRC) MANE Select ENSP00000401513.2:n.4993+62A>G
ENST00000411560.1:n.142+939T>C (CKMT1B)
ENST00000428650.5:c.*2026+62A>G (STRC) ENSP00000415991.1:n.*2026+62A>G
ENST00000440125.5:c.*2785+62A>G (STRC) ENSP00000394866.1:n.*2785+62A>G
ENST00000448437.6:n.2113+62A>G (STRC)
ENST00000450892.6:c.4993+62A>G (STRC) ENSP00000401513.2:n.4993+62A>G
ENST00000471703.5:n.2947+62A>G (STRC)
ENST00000485556.5:n.3848+62A>G (STRC)
ENST00000541030.5:c.2674+62A>G (STRC) ENSP00000440413.1:n.2674+62A>G
NM_153700.2:c.4993+62A>G (STRC) MANE Select NP_714544.1:n.4993+62A>G
XM_011521277.1:c.5482+62A>G (STRC) XP_011519579.1:n.5482+62A>G
XM_011521278.1:c.5098+62A>G (STRC) XP_011519580.1:n.5098+62A>G
XM_011521279.1:c.5098+62A>G (STRC) XP_011519581.1:n.5098+62A>G