Canonical Allele Identifier: CA2513611549
Gene: CHST3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72008162_72008163dup , CM000672.2:g.72008162_72008163dup GRCh38
NC_000010.10:g.73767920_73767921dup , CM000672.1:g.73767920_73767921dup GRCh37
NC_000010.9:g.73437926_73437927dup NCBI36
NG_012635.1:g.48801_48802dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.1131_1132dup MANE Select ENSP00000362207.4:p.Pro378ArgfsTer17
ENST00000373115.4:c.1131_1132dup ENSP00000362207.4:p.Pro378ArgfsTer17
NM_004273.4:c.1131_1132dup NP_004264.2:p.Pro378ArgfsTer17
XM_006718075.2:c.1131_1132dup XP_006718138.1:p.Pro378ArgfsTer17
XM_011540369.1:c.1131_1132dup XP_011538671.1:p.Pro378ArgfsTer17
XM_006718075.4:c.1131_1132dup XP_006718138.1:p.Pro378ArgfsTer17
XM_011540369.2:c.1131_1132dup XP_011538671.1:p.Pro378ArgfsTer17
NM_004273.5:c.1131_1132dup MANE Select NP_004264.2:p.Pro378ArgfsTer17