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: CA2994118592
Gene: HMCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186122887A>T , CM000663.2:g.186122887A>T GRCh38
NC_000001.10:g.186092019A>T , CM000663.1:g.186092019A>T GRCh37
NC_000001.9:g.184358642A>T NCBI36
NG_011841.1:g.393337A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.12230-64A>T MANE Select ENSP00000271588.4:n.12230-64A>T
ENST00000271588.8:c.12230-64A>T ENSP00000271588.4:n.12230-64A>T
NM_031935.2:c.12230-64A>T NP_114141.2:n.12230-64A>T
XM_011510037.1:c.11945-64A>T XP_011508339.1:n.11945-64A>T
XM_011510038.1:c.12230-64A>T XP_011508340.1:n.12230-64A>T
XM_011510039.1:c.12230-64A>T XP_011508341.1:n.12230-64A>T
XM_011510038.3:c.12230-64A>T XP_011508340.1:n.12230-64A>T
XM_017002437.1:c.10253-64A>T XP_016857926.1:n.10253-64A>T
NM_031935.3:c.12230-64A>T MANE Select NP_114141.2:n.12230-64A>T