Canonical Allele Identifier: CA422513720
Gene: HMCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186095394G>T , CM000663.2:g.186095394G>T GRCh38
NC_000001.10:g.186064526G>T , CM000663.1:g.186064526G>T GRCh37
NC_000001.9:g.184331149G>T NCBI36
NG_011841.1:g.365844G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.10446G>T MANE Select ENSP00000271588.4:p.Leu3482=
ENST00000271588.8:c.10446G>T ENSP00000271588.4:p.Leu3482=
NM_031935.2:c.10446G>T NP_114141.2:p.Leu3482=
XM_011510037.1:c.10161G>T XP_011508339.1:p.Leu3387=
XM_011510038.1:c.10446G>T XP_011508340.1:p.Leu3482=
XM_011510039.1:c.10446G>T XP_011508341.1:p.Leu3482=
XM_011510038.3:c.10446G>T XP_011508340.1:p.Leu3482=
XM_017002437.1:c.8469G>T XP_016857926.1:p.Leu2823=
XM_024450118.1:c.*94G>T XP_024305886.1:n.*94G>T
NM_031935.3:c.10446G>T MANE Select NP_114141.2:p.Leu3482=