Canonical Allele Identifier: CA343935123

Gene: HMCN1

Linked Data

• gnomAD v4: 1-186174531-G-A
• MyVariant Identifiers: chr1:g.186143663G>A (hg19) ; chr1:g.186174531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186174531G>A , CM000663.2:g.186174531G>A	GRCh38
NC_000001.10:g.186143663G>A , CM000663.1:g.186143663G>A	GRCh37
NC_000001.9:g.184410286G>A	NCBI36
NG_011841.1:g.444981G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.15832G>A MANE Select	ENSP00000271588.4:p.Asp5278Asn
ENST00000271588.8:c.15832G>A	ENSP00000271588.4:p.Asp5278Asn
ENST00000414277.1:c.208G>A	ENSP00000406205.1:p.Asp70Asn
NM_031935.2:c.15832G>A	NP_114141.2:p.Asp5278Asn
XM_011510037.1:c.15547G>A	XP_011508339.1:p.Asp5183Asn
XM_011510038.1:c.15832G>A	XP_011508340.1:p.Asp5278Asn
XM_011510038.3:c.15832G>A	XP_011508340.1:p.Asp5278Asn
XM_017002437.1:c.13855G>A	XP_016857926.1:p.Asp4619Asn
NM_031935.3:c.15832G>A MANE Select	NP_114141.2:p.Asp5278Asn