Canonical Allele Identifier: CA352155308

Gene: SCN10A

Linked Data

• MyVariant Identifiers: chr3:g.38739837C>G (hg19) ; chr3:g.38698346C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38698346C>G , CM000665.2:g.38698346C>G	GRCh38
NC_000003.11:g.38739837C>G , CM000665.1:g.38739837C>G	GRCh37
NC_000003.10:g.38714841C>G	NCBI36
NG_031891.2:g.100665G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.4874G>C MANE Select	ENSP00000390600.2:p.Gly1625Ala
ENST00000643924.1:c.4871G>C	ENSP00000495595.1:p.Gly1624Ala
ENST00000655275.1:c.4898G>C	ENSP00000499510.1:p.Gly1633Ala
ENST00000449082.2:c.4874G>C	ENSP00000390600.2:p.Gly1625Ala
NM_001293306.2:c.4871G>C	NP_001280235.2:p.Gly1624Ala
NM_001293307.2:c.4580G>C	NP_001280236.2:p.Gly1527Ala
NM_006514.3:c.4874G>C	NP_006505.3:p.Gly1625Ala
XM_005265371.2:c.4883G>C	XP_005265428.1:p.Gly1628Ala
XM_011533993.1:c.4880G>C	XP_011532295.1:p.Gly1627Ala
XM_011533994.1:c.4589G>C	XP_011532296.1:p.Gly1530Ala
XM_005265371.3:c.4883G>C	XP_005265428.1:p.Gly1628Ala
XM_011533993.2:c.4880G>C	XP_011532295.1:p.Gly1627Ala
XM_011533994.2:c.4589G>C	XP_011532296.1:p.Gly1530Ala
NM_006514.4:c.4874G>C MANE Select	NP_006505.4:p.Gly1625Ala