Canonical Allele Identifier: CA4322665

Gene: SEMA3A

Linked Data

• dbSNP Id: rs750024161
• ExAC: 7:83610659 G / A
• gnomAD v2: 7-83610659-G-A
• gnomAD v4: 7-83981343-G-A
• MyVariant Identifiers: chr7:g.83610659G>A (hg19) ; chr7:g.83981343G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83981343G>A , CM000669.2:g.83981343G>A	GRCh38
NC_000007.13:g.83610659G>A , CM000669.1:g.83610659G>A	GRCh37
NC_000007.12:g.83448595G>A	NCBI36
NG_011489.1:g.218559C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265362.9:c.1630C>T MANE Select	ENSP00000265362.3:p.Arg544Cys
ENST00000265362.8:c.1630C>T	ENSP00000265362.3:p.Arg544Cys
ENST00000436949.5:c.1630C>T	ENSP00000415260.1:p.Arg544Cys
NM_006080.2:c.1630C>T	NP_006071.1:p.Arg544Cys
XM_005250110.2:c.1630C>T	XP_005250167.1:p.Arg544Cys
XM_005250111.3:c.1630C>T	XP_005250168.1:p.Arg544Cys
XM_006715839.2:c.1630C>T	XP_006715902.1:p.Arg544Cys
XM_011515734.1:c.1630C>T	XP_011514036.1:p.Arg544Cys
XM_011515735.1:c.1630C>T	XP_011514037.1:p.Arg544Cys
XM_005250110.3:c.1630C>T	XP_005250167.1:p.Arg544Cys
XM_005250111.4:c.1630C>T	XP_005250168.1:p.Arg544Cys
XM_006715839.3:c.1630C>T	XP_006715902.1:p.Arg544Cys
XM_011515734.3:c.1630C>T	XP_011514036.1:p.Arg544Cys
XM_017011673.1:c.1630C>T	XP_016867162.1:p.Arg544Cys
XM_024446633.1:c.1630C>T	XP_024302401.1:p.Arg544Cys
NM_006080.3:c.1630C>T MANE Select	NP_006071.1:p.Arg544Cys