Canonical Allele Identifier: CA343907189

Gene: HMCN1

Linked Data

• MyVariant Identifiers: chr1:g.186099188A>T (hg19) ; chr1:g.186130056A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186130056A>T , CM000663.2:g.186130056A>T	GRCh38
NC_000001.10:g.186099188A>T , CM000663.1:g.186099188A>T	GRCh37
NC_000001.9:g.184365811A>T	NCBI36
NG_011841.1:g.400506A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.12995A>T MANE Select	ENSP00000271588.4:p.Asn4332Ile
ENST00000271588.8:c.12995A>T	ENSP00000271588.4:p.Asn4332Ile
NM_031935.2:c.12995A>T	NP_114141.2:p.Asn4332Ile
XM_011510037.1:c.12710A>T	XP_011508339.1:p.Asn4237Ile
XM_011510038.1:c.12995A>T	XP_011508340.1:p.Asn4332Ile
XM_011510039.1:c.12995A>T	XP_011508341.1:p.Asn4332Ile
XM_011510038.3:c.12995A>T	XP_011508340.1:p.Asn4332Ile
XM_017002437.1:c.11018A>T	XP_016857926.1:p.Asn3673Ile
NM_031935.3:c.12995A>T MANE Select	NP_114141.2:p.Asn4332Ile