Canonical Allele Identifier: CA352156789
Gene: SCN10A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38725281C>T , CM000665.2:g.38725281C>T GRCh38
NC_000003.11:g.38766772C>T , CM000665.1:g.38766772C>T GRCh37
NC_000003.10:g.38741776C>T NCBI36
NG_031891.2:g.73730G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000449082.3:c.3121G>A MANE Select ENSP00000390600.2:p.Asp1041Asn
ENST00000643924.1:c.3118G>A ENSP00000495595.1:p.Asp1040Asn
ENST00000655275.1:c.3145G>A ENSP00000499510.1:p.Asp1049Asn
ENST00000449082.2:c.3121G>A ENSP00000390600.2:p.Asp1041Asn
NM_001293306.2:c.3118G>A NP_001280235.2:p.Asp1040Asn
NM_001293307.2:c.2827G>A NP_001280236.2:p.Asp943Asn
NM_006514.3:c.3121G>A NP_006505.3:p.Asp1041Asn
XM_005265371.2:c.3130G>A XP_005265428.1:p.Asp1044Asn
XM_011533993.1:c.3127G>A XP_011532295.1:p.Asp1043Asn
XM_011533994.1:c.2836G>A XP_011532296.1:p.Asp946Asn
XM_005265371.3:c.3130G>A XP_005265428.1:p.Asp1044Asn
XM_011533993.2:c.3127G>A XP_011532295.1:p.Asp1043Asn
XM_011533994.2:c.2836G>A XP_011532296.1:p.Asp946Asn
NM_006514.4:c.3121G>A MANE Select NP_006505.4:p.Asp1041Asn