Canonical Allele Identifier: CA4322687
Gene: SEMA3A HGNC NCBI

Linked Data

dbSNP Id: rs780861957
gnomAD v2: 7-83610771-C-T
gnomAD v3: 7-83981455-C-T
gnomAD v4: 7-83981455-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83981455C>T , CM000669.2:g.83981455C>T GRCh38
NC_000007.13:g.83610771C>T , CM000669.1:g.83610771C>T GRCh37
NC_000007.12:g.83448707C>T NCBI36
NG_011489.1:g.218447G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265362.9:c.1518G>A MANE Select ENSP00000265362.3:p.Thr506=
ENST00000265362.8:c.1518G>A ENSP00000265362.3:p.Thr506=
ENST00000436949.5:c.1518G>A ENSP00000415260.1:p.Thr506=
NM_006080.2:c.1518G>A NP_006071.1:p.Thr506=
XM_005250110.2:c.1518G>A XP_005250167.1:p.Thr506=
XM_005250111.3:c.1518G>A XP_005250168.1:p.Thr506=
XM_006715839.2:c.1518G>A XP_006715902.1:p.Thr506=
XM_011515734.1:c.1518G>A XP_011514036.1:p.Thr506=
XM_011515735.1:c.1518G>A XP_011514037.1:p.Thr506=
XM_005250110.3:c.1518G>A XP_005250167.1:p.Thr506=
XM_005250111.4:c.1518G>A XP_005250168.1:p.Thr506=
XM_006715839.3:c.1518G>A XP_006715902.1:p.Thr506=
XM_011515734.3:c.1518G>A XP_011514036.1:p.Thr506=
XM_017011673.1:c.1518G>A XP_016867162.1:p.Thr506=
XM_024446633.1:c.1518G>A XP_024302401.1:p.Thr506=
NM_006080.3:c.1518G>A MANE Select NP_006071.1:p.Thr506=