Canonical Allele Identifier: CA422333795
Gene: HMCN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.186136044C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186166912C>A , CM000663.2:g.186166912C>A GRCh38
NC_000001.10:g.186136044C>A , CM000663.1:g.186136044C>A GRCh37
NC_000001.9:g.184402667C>A NCBI36
NG_011841.1:g.437362C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.15544C>A MANE Select ENSP00000271588.4:p.Arg5182=
ENST00000271588.8:c.15544C>A ENSP00000271588.4:p.Arg5182=
ENST00000475585.1:n.163-4425C>A
NM_031935.2:c.15544C>A NP_114141.2:p.Arg5182=
XM_011510037.1:c.15259C>A XP_011508339.1:p.Arg5087=
XM_011510038.1:c.15544C>A XP_011508340.1:p.Arg5182=
XM_011510038.3:c.15544C>A XP_011508340.1:p.Arg5182=
XM_017002437.1:c.13567C>A XP_016857926.1:p.Arg4523=
NM_031935.3:c.15544C>A MANE Select NP_114141.2:p.Arg5182=