Canonical Allele Identifier: CA343931421
Gene: HMCN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186095492T>C , CM000663.2:g.186095492T>C GRCh38
NC_000001.10:g.186064624T>C , CM000663.1:g.186064624T>C GRCh37
NC_000001.9:g.184331247T>C NCBI36
NG_011841.1:g.365942T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.10544T>C MANE Select ENSP00000271588.4:p.Val3515Ala
ENST00000271588.8:c.10544T>C ENSP00000271588.4:p.Val3515Ala
NM_031935.2:c.10544T>C NP_114141.2:p.Val3515Ala
XM_011510037.1:c.10259T>C XP_011508339.1:p.Val3420Ala
XM_011510038.1:c.10544T>C XP_011508340.1:p.Val3515Ala
XM_011510039.1:c.10544T>C XP_011508341.1:p.Val3515Ala
XM_011510038.3:c.10544T>C XP_011508340.1:p.Val3515Ala
XM_017002437.1:c.8567T>C XP_016857926.1:p.Val2856Ala
NM_031935.3:c.10544T>C MANE Select NP_114141.2:p.Val3515Ala