Canonical Allele Identifier: CA8196968
COSMIC:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.83783414A>G , CM000678.2:g.83783414A>G GRCh38
NC_000016.9:g.83817019A>G , CM000678.1:g.83817019A>G GRCh37
NC_000016.8:g.82374520A>G NCBI36
NG_052819.1:g.1161621A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000690173.1:n.98-24621A>G (HSBP1)
ENST00000693379.1:n.98-24621A>G (HSBP1)
ENST00000693758.1:n.98-24621A>G (HSBP1)
ENST00000567109.6:c.2076A>G (CDH13) MANE Select ENSP00000479395.1:p.Ala692=
ENST00000268613.14:c.2217A>G (CDH13) ENSP00000268613.10:p.Ala739=
ENST00000428848.7:c.1959A>G (CDH13) ENSP00000394557.3:p.Ala653=
ENST00000539548.6:c.*1708A>G (CDH13) ENSP00000442225.2:n.*1708A>G
ENST00000566620.5:c.2040A>G (CDH13) ENSP00000454435.3:p.Ala680=
ENST00000567109.5:c.2076A>G (CDH13) ENSP00000479395.1:p.Ala692=
ENST00000615627.1:c.996A>G (CDH13) ENSP00000482651.1:p.Ala332=
ENST00000622885.4:c.1920A>G (CDH13) ENSP00000483719.1:p.Ala640=
NM_001220488.1:c.2217A>G (CDH13) NP_001207417.1:p.Ala739=
NM_001220489.1:c.1959A>G (CDH13) NP_001207418.1:p.Ala653=
NM_001220490.1:c.1314A>G (CDH13) NP_001207419.1:p.Ala438=
NM_001257.4:c.2076A>G (CDH13) NP_001248.1:p.Ala692=
XM_011522804.1:c.1773A>G (CDH13) XP_011521106.1:p.Ala591=
XM_011522804.3:c.1773A>G (CDH13) XP_011521106.1:p.Ala591=
NM_001257.5:c.2076A>G (CDH13) MANE Select NP_001248.1:p.Ala692=
NM_001220488.2:c.2217A>G (CDH13) NP_001207417.1:p.Ala739=
NM_001220489.2:c.1959A>G (CDH13) NP_001207418.1:p.Ala653=
NM_001220490.2:c.1314A>G (CDH13) NP_001207419.1:p.Ala438=