Canonical Allele Identifier: CA352156730
Gene: SCN10A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725253G>T , CM000665.2:g.38725253G>T GRCh38
NC_000003.11:g.38766744G>T , CM000665.1:g.38766744G>T GRCh37
NC_000003.10:g.38741748G>T NCBI36
NG_031891.2:g.73758C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3149C>A MANE Select ENSP00000390600.2:p.Thr1050Asn
ENST00000643924.1:c.3146C>A ENSP00000495595.1:p.Thr1049Asn
ENST00000655275.1:c.3173C>A ENSP00000499510.1:p.Thr1058Asn
ENST00000449082.2:c.3149C>A ENSP00000390600.2:p.Thr1050Asn
NM_001293306.2:c.3146C>A NP_001280235.2:p.Thr1049Asn
NM_001293307.2:c.2855C>A NP_001280236.2:p.Thr952Asn
NM_006514.3:c.3149C>A NP_006505.3:p.Thr1050Asn
XM_005265371.2:c.3158C>A XP_005265428.1:p.Thr1053Asn
XM_011533993.1:c.3155C>A XP_011532295.1:p.Thr1052Asn
XM_011533994.1:c.2864C>A XP_011532296.1:p.Thr955Asn
XM_005265371.3:c.3158C>A XP_005265428.1:p.Thr1053Asn
XM_011533993.2:c.3155C>A XP_011532295.1:p.Thr1052Asn
XM_011533994.2:c.2864C>A XP_011532296.1:p.Thr955Asn
NM_006514.4:c.3149C>A MANE Select NP_006505.4:p.Thr1050Asn