Canonical Allele Identifier: CA352156609
Gene: SCN10A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725191G>T , CM000665.2:g.38725191G>T GRCh38
NC_000003.11:g.38766682G>T , CM000665.1:g.38766682G>T GRCh37
NC_000003.10:g.38741686G>T NCBI36
NG_031891.2:g.73820C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3211C>A MANE Select ENSP00000390600.2:p.Pro1071Thr
ENST00000643924.1:c.3208C>A ENSP00000495595.1:p.Pro1070Thr
ENST00000655275.1:c.3235C>A ENSP00000499510.1:p.Pro1079Thr
ENST00000449082.2:c.3211C>A ENSP00000390600.2:p.Pro1071Thr
NM_001293306.2:c.3208C>A NP_001280235.2:p.Pro1070Thr
NM_001293307.2:c.2917C>A NP_001280236.2:p.Pro973Thr
NM_006514.3:c.3211C>A NP_006505.3:p.Pro1071Thr
XM_005265371.2:c.3220C>A XP_005265428.1:p.Pro1074Thr
XM_011533993.1:c.3217C>A XP_011532295.1:p.Pro1073Thr
XM_011533994.1:c.2926C>A XP_011532296.1:p.Pro976Thr
XM_005265371.3:c.3220C>A XP_005265428.1:p.Pro1074Thr
XM_011533993.2:c.3217C>A XP_011532295.1:p.Pro1073Thr
XM_011533994.2:c.2926C>A XP_011532296.1:p.Pro976Thr
NM_006514.4:c.3211C>A MANE Select NP_006505.4:p.Pro1071Thr