Canonical Allele Identifier: CA422513706
Gene: HMCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186095391T>C , CM000663.2:g.186095391T>C GRCh38
NC_000001.10:g.186064523T>C , CM000663.1:g.186064523T>C GRCh37
NC_000001.9:g.184331146T>C NCBI36
NG_011841.1:g.365841T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.10443T>C MANE Select ENSP00000271588.4:p.His3481=
ENST00000271588.8:c.10443T>C ENSP00000271588.4:p.His3481=
NM_031935.2:c.10443T>C NP_114141.2:p.His3481=
XM_011510037.1:c.10158T>C XP_011508339.1:p.His3386=
XM_011510038.1:c.10443T>C XP_011508340.1:p.His3481=
XM_011510039.1:c.10443T>C XP_011508341.1:p.His3481=
XM_011510038.3:c.10443T>C XP_011508340.1:p.His3481=
XM_017002437.1:c.8466T>C XP_016857926.1:p.His2822=
XM_024450118.1:c.*91T>C XP_024305886.1:n.*91T>C
NM_031935.3:c.10443T>C MANE Select NP_114141.2:p.His3481=