Canonical Allele Identifier: CA1812853423
Gene: TRPS1 HGNC NCBI

Linked Data

dbSNP Id: rs1586248856

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.115413924A>G , CM000670.2:g.115413924A>G GRCh38
NC_000008.10:g.116426152A>G , CM000670.1:g.116426152A>G GRCh37
NC_000008.9:g.116495328A>G NCBI36
NG_012383.3:g.260078T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395715.8:c.*99T>C MANE Select ENSP00000379065.3:n.*99T>C
ENST00000640765.1:c.*99T>C ENSP00000492037.1:n.*99T>C
ENST00000220888.9:c.*99T>C ENSP00000220888.5:n.*99T>C
ENST00000395715.7:c.*99T>C ENSP00000379065.3:n.*99T>C
ENST00000519076.5:c.*99T>C ENSP00000428910.1:n.*99T>C
ENST00000520276.5:c.*99T>C ENSP00000428680.1:n.*99T>C
NM_001282902.2:c.*99T>C NP_001269831.1:n.*99T>C
NM_001282903.2:c.*99T>C NP_001269832.1:n.*99T>C
NM_014112.4:c.*99T>C NP_054831.2:n.*99T>C
XM_005251049.2:c.*99T>C XP_005251106.1:n.*99T>C
XM_006716625.1:c.*99T>C XP_006716688.1:n.*99T>C
XM_011517264.1:c.*99T>C XP_011515566.1:n.*99T>C
XM_011517265.1:c.*99T>C XP_011515567.1:n.*99T>C
XM_011517266.1:c.*99T>C XP_011515568.1:n.*99T>C
XM_011517267.1:c.*99T>C XP_011515569.1:n.*99T>C
XM_011517268.1:c.*99T>C XP_011515570.1:n.*99T>C
NM_001330599.1:c.*99T>C NP_001317528.1:n.*99T>C
XM_011517264.2:c.*99T>C XP_011515566.1:n.*99T>C
XM_011517266.3:c.*99T>C XP_011515568.1:n.*99T>C
XM_011517268.2:c.*99T>C XP_011515570.1:n.*99T>C
NM_001282902.3:c.*99T>C NP_001269831.1:n.*99T>C
NM_001282903.3:c.*99T>C NP_001269832.1:n.*99T>C
NM_001330599.2:c.*99T>C NP_001317528.1:n.*99T>C
NM_014112.5:c.*99T>C MANE Select NP_054831.2:n.*99T>C