Canonical Allele Identifier: CA367930193
Gene: SEMA3E HGNC NCBI

Linked Data

dbSNP Id: rs1401068046
gnomAD v2: 7-83036436-T-C
gnomAD v4: 7-83407120-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83407120T>C , CM000669.2:g.83407120T>C GRCh38
NC_000007.13:g.83036436T>C , CM000669.1:g.83036436T>C GRCh37
NC_000007.12:g.82874372T>C NCBI36
NG_021242.1:g.247044A>G
NG_021242.2:g.247044A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.610A>G ENSP00000405052.1:p.Thr204Ala
ENST00000642232.1:c.790A>G ENSP00000494064.1:p.Thr264Ala
ENST00000643230.2:c.790A>G MANE Select ENSP00000496491.1:p.Thr264Ala
ENST00000643441.1:n.775A>G
ENST00000307792.7:c.790A>G ENSP00000303212.3:p.Thr264Ala
ENST00000427262.5:c.610A>G ENSP00000405052.1:p.Thr204Ala
NM_001178129.1:c.610A>G NP_001171600.1:p.Thr204Ala
NM_012431.2:c.790A>G NP_036563.1:p.Thr264Ala
XM_011516715.1:c.790A>G XP_011515017.1:p.Thr264Ala
NM_012431.3:c.790A>G MANE Select NP_036563.1:p.Thr264Ala
NM_001178129.2:c.610A>G NP_001171600.1:p.Thr204Ala