Canonical Allele Identifier: CA352167553
Gene: SCN10A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38752409T>G , CM000665.2:g.38752409T>G GRCh38
NC_000003.11:g.38793900T>G , CM000665.1:g.38793900T>G GRCh37
NC_000003.10:g.38768904T>G NCBI36
NG_031891.2:g.46602A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.1565A>C MANE Select ENSP00000390600.2:p.Asp522Ala
ENST00000643924.1:c.1565A>C ENSP00000495595.1:p.Asp522Ala
ENST00000655275.1:c.1592A>C ENSP00000499510.1:p.Asp531Ala
ENST00000449082.2:c.1565A>C ENSP00000390600.2:p.Asp522Ala
NM_001293306.2:c.1565A>C NP_001280235.2:p.Asp522Ala
NM_001293307.2:c.1462-2225A>C NP_001280236.2:n.1462-2225A>C
NM_006514.3:c.1565A>C NP_006505.3:p.Asp522Ala
XM_005265371.2:c.1574A>C XP_005265428.1:p.Asp525Ala
XM_011533993.1:c.1574A>C XP_011532295.1:p.Asp525Ala
XM_011533994.1:c.1471-2225A>C XP_011532296.1:n.1471-2225A>C
XM_005265371.3:c.1574A>C XP_005265428.1:p.Asp525Ala
XM_011533993.2:c.1574A>C XP_011532295.1:p.Asp525Ala
XM_011533994.2:c.1471-2225A>C XP_011532296.1:n.1471-2225A>C
NM_006514.4:c.1565A>C MANE Select NP_006505.4:p.Asp522Ala