Canonical Allele Identifier: CA2173248043

Linked Data

dbSNP Id: rs2085656323

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600485T>A , CM000677.2:g.43600485T>A GRCh38
NC_000015.9:g.43892683T>A , CM000677.1:g.43892683T>A GRCh37
NC_000015.8:g.41679975T>A NCBI36
NG_011636.1:g.23316A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4993+49A>T (STRC) MANE Select ENSP00000401513.2:n.4993+49A>T
ENST00000411560.1:n.142+952T>A (CKMT1B)
ENST00000428650.5:c.*2026+49A>T (STRC) ENSP00000415991.1:n.*2026+49A>T
ENST00000440125.5:c.*2785+49A>T (STRC) ENSP00000394866.1:n.*2785+49A>T
ENST00000448437.6:n.2113+49A>T (STRC)
ENST00000450892.6:c.4993+49A>T (STRC) ENSP00000401513.2:n.4993+49A>T
ENST00000471703.5:n.2947+49A>T (STRC)
ENST00000485556.5:n.3848+49A>T (STRC)
ENST00000541030.5:c.2674+49A>T (STRC) ENSP00000440413.1:n.2674+49A>T
NM_153700.2:c.4993+49A>T (STRC) MANE Select NP_714544.1:n.4993+49A>T
XM_011521277.1:c.5482+49A>T (STRC) XP_011519579.1:n.5482+49A>T
XM_011521278.1:c.5098+49A>T (STRC) XP_011519580.1:n.5098+49A>T
XM_011521279.1:c.5098+49A>T (STRC) XP_011519581.1:n.5098+49A>T