Canonical Allele Identifier: CA1358557075
Community Standard Title: NM_000335.5(SCN5A):c.5381A= (p.Tyr1794=)
Gene: SCN5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38550988T= , CM000665.2:g.38550988T= GRCh38
NC_000003.11:g.38592479T= , CM000665.1:g.38592479T= GRCh37
NC_000003.10:g.38567483T= NCBI36
NG_008934.1:g.103685A= , LRG_289:g.103685A=

Transcript Alleles

HGVS Amino-acid Change
NM_000335.5:c.5381A= MANE Select NP_000326.2:p.Tyr1794=
ENST00000423572.7:c.5381A= MANE Select ENSP00000398266.2:p.Tyr1794=
NM_001099404.2:c.5384A= MANE Plus Clinical NP_001092874.1:p.Tyr1795=
ENST00000413689.6:c.5384A= MANE Plus Clinical ENSP00000410257.1:p.Tyr1795=
NM_000335.4:c.5381A= , LRG_289t2:c.5381A= NP_000326.2:p.Tyr1794=
NM_001099404.1:c.5384A= , LRG_289t3:c.5384A= NP_001092874.1:p.Tyr1795=
NM_001099405.1:c.5330A= NP_001092875.1:p.Tyr1777=
NM_001099405.2:c.5330A= NP_001092875.1:p.Tyr1777=
NM_001160160.1:c.5285A= NP_001153632.1:p.Tyr1762=
NM_001160160.2:c.5285A= NP_001153632.1:p.Tyr1762=
NM_001160161.1:c.5222A= NP_001153633.1:p.Tyr1741=
NM_001160161.2:c.5222A= NP_001153633.1:p.Tyr1741=
NM_001354701.1:c.5327A= NP_001341630.1:p.Tyr1776=
NM_001354701.2:c.5327A= NP_001341630.1:p.Tyr1776=
NM_198056.2:c.5384A= , LRG_289t1:c.5384A= NP_932173.1:p.Tyr1795=
NM_198056.3:c.5384A= NP_932173.1:p.Tyr1795=
ENST00000327956.7:c.5381A= ENSP00000333674.7:p.Tyr1794=
ENST00000333535.8:c.5384A= ENSP00000328968.4:p.Tyr1795=
ENST00000333535.9:c.5384A= ENSP00000328968.4:p.Tyr1795=
ENST00000413689.5:c.5384A= ENSP00000410257.1:p.Tyr1795=
ENST00000414099.6:c.5330A= ENSP00000398962.2:p.Tyr1777=
ENST00000423572.6:c.5381A= ENSP00000398266.2:p.Tyr1794=
ENST00000425664.5:c.5330A= ENSP00000416634.1:p.Tyr1777=
ENST00000449557.6:c.5222A= ENSP00000413996.2:p.Tyr1741=
ENST00000450102.6:c.5222A= ENSP00000403355.2:p.Tyr1741=
ENST00000451551.6:c.5222A= ENSP00000388797.2:p.Tyr1741=
ENST00000455624.6:c.5285A= ENSP00000399524.2:p.Tyr1762=
XM_006713282.2:c.5384A= XP_006713345.1:p.Tyr1795=
XM_011533991.1:c.5381A= XP_011532293.1:p.Tyr1794=
XM_011533991.2:c.5381A= XP_011532293.1:p.Tyr1794=
XM_011533992.1:c.5255A= XP_011532294.1:p.Tyr1752=
XM_017007017.1:c.5222A= XP_016862506.1:p.Tyr1741=