This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA1213006369
Gene: HMCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186122809T= , CM000663.2:g.186122809T= GRCh38
NC_000001.10:g.186091941T= , CM000663.1:g.186091941T= GRCh37
NC_000001.9:g.184358564T= NCBI36
NG_011841.1:g.393259T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.12230-142T= MANE Select ENSP00000271588.4:n.12230-142T=
ENST00000271588.8:c.12230-142T= ENSP00000271588.4:n.12230-142T=
NM_031935.2:c.12230-142T= NP_114141.2:n.12230-142T=
XM_011510037.1:c.11945-142T= XP_011508339.1:n.11945-142T=
XM_011510038.1:c.12230-142T= XP_011508340.1:n.12230-142T=
XM_011510039.1:c.12230-142T= XP_011508341.1:n.12230-142T=
XM_011510038.3:c.12230-142T= XP_011508340.1:n.12230-142T=
XM_017002437.1:c.10253-142T= XP_016857926.1:n.10253-142T=
NM_031935.3:c.12230-142T= MANE Select NP_114141.2:n.12230-142T=