Canonical Allele Identifier: CA343933843
Gene: HMCN1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186172060C>G , CM000663.2:g.186172060C>G GRCh38
NC_000001.10:g.186141192C>G , CM000663.1:g.186141192C>G GRCh37
NC_000001.9:g.184407815C>G NCBI36
NG_011841.1:g.442510C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.15743C>G MANE Select ENSP00000271588.4:p.Thr5248Ser
ENST00000271588.8:c.15743C>G ENSP00000271588.4:p.Thr5248Ser
ENST00000414277.1:c.119C>G ENSP00000406205.1:p.Thr40Ser
ENST00000475585.1:n.331C>G
NM_031935.2:c.15743C>G NP_114141.2:p.Thr5248Ser
XM_011510037.1:c.15458C>G XP_011508339.1:p.Thr5153Ser
XM_011510038.1:c.15743C>G XP_011508340.1:p.Thr5248Ser
XM_011510038.3:c.15743C>G XP_011508340.1:p.Thr5248Ser
XM_017002437.1:c.13766C>G XP_016857926.1:p.Thr4589Ser
NM_031935.3:c.15743C>G MANE Select NP_114141.2:p.Thr5248Ser