Canonical Allele Identifier: CA343931432

Gene: HMCN1

Linked Data

• MyVariant Identifiers: chr1:g.186064628C>G (hg19) ; chr1:g.186095496C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186095496C>G , CM000663.2:g.186095496C>G	GRCh38
NC_000001.10:g.186064628C>G , CM000663.1:g.186064628C>G	GRCh37
NC_000001.9:g.184331251C>G	NCBI36
NG_011841.1:g.365946C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.10548C>G MANE Select	ENSP00000271588.4:p.Ser3516Arg
ENST00000271588.8:c.10548C>G	ENSP00000271588.4:p.Ser3516Arg
NM_031935.2:c.10548C>G	NP_114141.2:p.Ser3516Arg
XM_011510037.1:c.10263C>G	XP_011508339.1:p.Ser3421Arg
XM_011510038.1:c.10548C>G	XP_011508340.1:p.Ser3516Arg
XM_011510039.1:c.10548C>G	XP_011508341.1:p.Ser3516Arg
XM_011510038.3:c.10548C>G	XP_011508340.1:p.Ser3516Arg
XM_017002437.1:c.8571C>G	XP_016857926.1:p.Ser2857Arg
NM_031935.3:c.10548C>G MANE Select	NP_114141.2:p.Ser3516Arg