Canonical Allele Identifier: CA16044147
Gene: SEMA3D HGNC NCBI

Linked Data

ClinVar Variation Id: 224833
ClinVar RCV Id: RCV000416605
dbSNP Id: rs1057519374
gnomAD v3: 7-85012812-G-A
gnomAD v4: 7-85012812-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.85012812G>A , CM000669.2:g.85012812G>A GRCh38
NC_000007.13:g.84642128G>A , CM000669.1:g.84642128G>A GRCh37
NC_000007.12:g.84480064G>A NCBI36
NG_051329.1:g.179044C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000284136.11:c.1738C>T MANE Select ENSP00000284136.6:p.Pro580Ser
ENST00000284136.10:c.1738C>T ENSP00000284136.6:p.Pro580Ser
ENST00000484038.1:n.864C>T
NM_152754.2:c.1738C>T NP_689967.2:p.Pro580Ser
XM_011515960.1:c.1738C>T XP_011514262.1:p.Pro580Ser
XM_011515961.1:c.1156C>T XP_011514263.1:p.Pro386Ser
XM_011515962.1:c.655C>T XP_011514264.1:p.Pro219Ser
XM_011515961.2:c.1156C>T XP_011514263.1:p.Pro386Ser
XM_017011873.1:c.1738C>T XP_016867362.1:p.Pro580Ser
NM_001384900.1:c.1738C>T MANE Select NP_001371829.1:p.Pro580Ser
NM_001384901.1:c.1738C>T NP_001371830.1:p.Pro580Ser
NM_001384902.1:c.1738C>T NP_001371831.1:p.Pro580Ser
NM_001384903.1:c.1738C>T NP_001371832.1:p.Pro580Ser
NM_152754.3:c.1738C>T NP_689967.2:p.Pro580Ser