Canonical Allele Identifier: CA2238187387

Linked Data

dbSNP Id: rs1597151824

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.83737970A>C , CM000678.2:g.83737970A>C GRCh38
NC_000016.9:g.83771575A>C , CM000678.1:g.83771575A>C GRCh37
NC_000016.8:g.82329076A>C NCBI36
NG_052819.1:g.1116177A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000690173.1:n.97+18563A>C (HSBP1)
ENST00000693379.1:n.97+18563A>C (HSBP1)
ENST00000693758.1:n.97+18563A>C (HSBP1)
ENST00000567109.6:c.1539-10138A>C (CDH13) MANE Select ENSP00000479395.1:n.1539-10138A>C
ENST00000268613.14:c.1680-10138A>C (CDH13) ENSP00000268613.10:n.1680-10138A>C
ENST00000428848.7:c.1422-10138A>C (CDH13) ENSP00000394557.3:n.1422-10138A>C
ENST00000539548.6:c.*1171-10138A>C (CDH13) ENSP00000442225.2:n.*1171-10138A>C
ENST00000566620.5:c.1503-10138A>C (CDH13) ENSP00000454435.3:n.1503-10138A>C
ENST00000567109.5:c.1539-10138A>C (CDH13) ENSP00000479395.1:n.1539-10138A>C
ENST00000615627.1:c.459-10138A>C (CDH13) ENSP00000482651.1:n.459-10138A>C
ENST00000622885.4:c.1383-10138A>C (CDH13) ENSP00000483719.1:n.1383-10138A>C
NM_001220488.1:c.1680-10138A>C (CDH13) NP_001207417.1:n.1680-10138A>C
NM_001220489.1:c.1422-10138A>C (CDH13) NP_001207418.1:n.1422-10138A>C
NM_001220490.1:c.777-10138A>C (CDH13) NP_001207419.1:n.777-10138A>C
NM_001257.4:c.1539-10138A>C (CDH13) NP_001248.1:n.1539-10138A>C
XM_011522804.1:c.1236-10138A>C (CDH13) XP_011521106.1:n.1236-10138A>C
XM_011522804.3:c.1236-10138A>C (CDH13) XP_011521106.1:n.1236-10138A>C
NM_001257.5:c.1539-10138A>C (CDH13) MANE Select NP_001248.1:n.1539-10138A>C
NM_001220488.2:c.1680-10138A>C (CDH13) NP_001207417.1:n.1680-10138A>C
NM_001220489.2:c.1422-10138A>C (CDH13) NP_001207418.1:n.1422-10138A>C
NM_001220490.2:c.777-10138A>C (CDH13) NP_001207419.1:n.777-10138A>C