Canonical Allele Identifier: CA422513696
Gene: HMCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186095385T>C , CM000663.2:g.186095385T>C GRCh38
NC_000001.10:g.186064517T>C , CM000663.1:g.186064517T>C GRCh37
NC_000001.9:g.184331140T>C NCBI36
NG_011841.1:g.365835T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.10437T>C MANE Select ENSP00000271588.4:p.Asp3479=
ENST00000271588.8:c.10437T>C ENSP00000271588.4:p.Asp3479=
NM_031935.2:c.10437T>C NP_114141.2:p.Asp3479=
XM_011510037.1:c.10152T>C XP_011508339.1:p.Asp3384=
XM_011510038.1:c.10437T>C XP_011508340.1:p.Asp3479=
XM_011510039.1:c.10437T>C XP_011508341.1:p.Asp3479=
XM_011510040.1:c.*85T>C XP_011508342.1:n.*85T>C
XM_011510038.3:c.10437T>C XP_011508340.1:p.Asp3479=
XM_017002437.1:c.8460T>C XP_016857926.1:p.Asp2820=
XM_024450118.1:c.*85T>C XP_024305886.1:n.*85T>C
NM_031935.3:c.10437T>C MANE Select NP_114141.2:p.Asp3479=