Canonical Allele Identifier: CA343933766

Gene: HMCN1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186172052T>A , CM000663.2:g.186172052T>A	GRCh38
NC_000001.10:g.186141184T>A , CM000663.1:g.186141184T>A	GRCh37
NC_000001.9:g.184407807T>A	NCBI36
NG_011841.1:g.442502T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.15735T>A MANE Select	ENSP00000271588.4:p.Cys5245Ter
ENST00000271588.8:c.15735T>A	ENSP00000271588.4:p.Cys5245Ter
ENST00000414277.1:c.111T>A	ENSP00000406205.1:p.Cys37Ter
ENST00000475585.1:n.323T>A
NM_031935.2:c.15735T>A	NP_114141.2:p.Cys5245Ter
XM_011510037.1:c.15450T>A	XP_011508339.1:p.Cys5150Ter
XM_011510038.1:c.15735T>A	XP_011508340.1:p.Cys5245Ter
XM_011510038.3:c.15735T>A	XP_011508340.1:p.Cys5245Ter
XM_017002437.1:c.13758T>A	XP_016857926.1:p.Cys4586Ter
NM_031935.3:c.15735T>A MANE Select	NP_114141.2:p.Cys5245Ter