Canonical Allele Identifier: CA115379
Gene: SEC63 HGNC NCBI

Linked Data

ClinVar Variation Id: 2167
ClinVar RCV Id: RCV000002251
dbSNP Id: rs119103233

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.107929466C>T , CM000668.2:g.107929466C>T GRCh38
NC_000006.11:g.108250670C>T , CM000668.1:g.108250670C>T GRCh37
NC_000006.10:g.108357363C>T NCBI36
NG_008270.1:g.33813G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369002.9:c.173G>A MANE Select ENSP00000357998.4:p.Trp58Ter
ENST00000369002.8:c.173G>A ENSP00000357998.4:p.Trp58Ter
ENST00000429168.1:c.5G>A ENSP00000403144.1:p.Trp2Ter
ENST00000446496.1:c.*72G>A ENSP00000410968.1:n.*72G>A
ENST00000484803.5:n.95G>A
NM_007214.4:c.173G>A NP_009145.1:p.Trp58Ter
XM_011535399.1:c.5G>A XP_011533701.1:p.Trp2Ter
XM_017010218.2:c.-922G>A XP_016865707.1:n.-922G>A
NM_007214.5:c.173G>A MANE Select NP_009145.1:p.Trp58Ter