Canonical Allele Identifier: CA343933760
Gene: HMCN1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186172050T>G , CM000663.2:g.186172050T>G GRCh38
NC_000001.10:g.186141182T>G , CM000663.1:g.186141182T>G GRCh37
NC_000001.9:g.184407805T>G NCBI36
NG_011841.1:g.442500T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.15733T>G MANE Select ENSP00000271588.4:p.Cys5245Gly
ENST00000271588.8:c.15733T>G ENSP00000271588.4:p.Cys5245Gly
ENST00000414277.1:c.109T>G ENSP00000406205.1:p.Cys37Gly
ENST00000475585.1:n.321T>G
NM_031935.2:c.15733T>G NP_114141.2:p.Cys5245Gly
XM_011510037.1:c.15448T>G XP_011508339.1:p.Cys5150Gly
XM_011510038.1:c.15733T>G XP_011508340.1:p.Cys5245Gly
XM_011510038.3:c.15733T>G XP_011508340.1:p.Cys5245Gly
XM_017002437.1:c.13756T>G XP_016857926.1:p.Cys4586Gly
NM_031935.3:c.15733T>G MANE Select NP_114141.2:p.Cys5245Gly