Canonical Allele Identifier: CA343931428

Gene: HMCN1

Linked Data

• MyVariant Identifiers: chr1:g.186064627G>T (hg19) ; chr1:g.186095495G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186095495G>T , CM000663.2:g.186095495G>T	GRCh38
NC_000001.10:g.186064627G>T , CM000663.1:g.186064627G>T	GRCh37
NC_000001.9:g.184331250G>T	NCBI36
NG_011841.1:g.365945G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.10547G>T MANE Select	ENSP00000271588.4:p.Ser3516Ile
ENST00000271588.8:c.10547G>T	ENSP00000271588.4:p.Ser3516Ile
NM_031935.2:c.10547G>T	NP_114141.2:p.Ser3516Ile
XM_011510037.1:c.10262G>T	XP_011508339.1:p.Ser3421Ile
XM_011510038.1:c.10547G>T	XP_011508340.1:p.Ser3516Ile
XM_011510039.1:c.10547G>T	XP_011508341.1:p.Ser3516Ile
XM_011510038.3:c.10547G>T	XP_011508340.1:p.Ser3516Ile
XM_017002437.1:c.8570G>T	XP_016857926.1:p.Ser2857Ile
NM_031935.3:c.10547G>T MANE Select	NP_114141.2:p.Ser3516Ile