Canonical Allele Identifier: CA5189754
Gene: SUSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 716152
ClinVar RCV Id: RCV000888739
dbSNP Id: rs60956063

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.112080173G>A , CM000671.2:g.112080173G>A GRCh38
NC_000009.11:g.114842453G>A , CM000671.1:g.114842453G>A GRCh37
NC_000009.10:g.113882274G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000374270.8:c.1475-8C>T MANE Select ENSP00000363388.4:n.1475-8C>T
ENST00000355396.7:c.1425-8C>T
ENST00000374263.7:c.1475-8C>T ENSP00000363381.3:n.1475-8C>T
ENST00000374264.6:c.1475-8C>T ENSP00000363382.2:n.1475-8C>T
ENST00000374270.7:c.1475-8C>T ENSP00000363388.3:n.1475-8C>T
ENST00000529933.5:n.534-8C>T
NM_001282640.1:c.1475-8C>T NP_001269569.1:n.1475-8C>T
NM_001282643.1:c.1475-8C>T NP_001269572.1:n.1475-8C>T
NM_022486.4:c.1475-8C>T NP_071931.2:n.1475-8C>T
XM_011518915.1:c.1514-8C>T XP_011517217.1:n.1514-8C>T
XM_011518916.1:c.1514-8C>T XP_011517218.1:n.1514-8C>T
XM_011518917.1:c.1514-8C>T XP_011517219.1:n.1514-8C>T
XM_011518918.1:c.1514-8C>T XP_011517220.1:n.1514-8C>T
XM_011518919.1:c.1358-8C>T XP_011517221.1:n.1358-8C>T
XR_929833.1:n.1799-8C>T
XR_929834.1:n.1799-8C>T
XR_929835.1:n.1799-8C>T
XM_011518915.2:c.1514-8C>T XP_011517217.1:n.1514-8C>T
XM_011518916.3:c.1514-8C>T XP_011517218.1:n.1514-8C>T
XM_011518917.2:c.1514-8C>T XP_011517219.1:n.1514-8C>T
XM_011518918.2:c.1514-8C>T XP_011517220.1:n.1514-8C>T
XM_011518919.2:c.1358-8C>T XP_011517221.1:n.1358-8C>T
XM_017015037.2:c.1514-8C>T XP_016870526.1:n.1514-8C>T
XM_017015038.2:c.1475-8C>T XP_016870527.1:n.1475-8C>T
XM_017015039.2:c.1514-8C>T XP_016870528.1:n.1514-8C>T
XR_929833.2:n.1576-8C>T
XR_929835.2:n.1576-8C>T
NM_001282640.2:c.1475-8C>T NP_001269569.1:n.1475-8C>T
NM_022486.5:c.1475-8C>T MANE Select NP_071931.2:n.1475-8C>T
NM_001282643.2:c.1475-8C>T NP_001269572.1:n.1475-8C>T