Canonical Allele Identifier: CA422334642
Gene: HMCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186172058C>T , CM000663.2:g.186172058C>T GRCh38
NC_000001.10:g.186141190C>T , CM000663.1:g.186141190C>T GRCh37
NC_000001.9:g.184407813C>T NCBI36
NG_011841.1:g.442508C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.15741C>T MANE Select ENSP00000271588.4:p.Asn5247=
ENST00000271588.8:c.15741C>T ENSP00000271588.4:p.Asn5247=
ENST00000414277.1:c.117C>T ENSP00000406205.1:p.Asn39=
ENST00000475585.1:n.329C>T
NM_031935.2:c.15741C>T NP_114141.2:p.Asn5247=
XM_011510037.1:c.15456C>T XP_011508339.1:p.Asn5152=
XM_011510038.1:c.15741C>T XP_011508340.1:p.Asn5247=
XM_011510038.3:c.15741C>T XP_011508340.1:p.Asn5247=
XM_017002437.1:c.13764C>T XP_016857926.1:p.Asn4588=
NM_031935.3:c.15741C>T MANE Select NP_114141.2:p.Asn5247=