Canonical Allele Identifier: CA343933769

Gene: HMCN1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186172053A>T , CM000663.2:g.186172053A>T	GRCh38
NC_000001.10:g.186141185A>T , CM000663.1:g.186141185A>T	GRCh37
NC_000001.9:g.184407808A>T	NCBI36
NG_011841.1:g.442503A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.15736A>T MANE Select	ENSP00000271588.4:p.Lys5246Ter
ENST00000271588.8:c.15736A>T	ENSP00000271588.4:p.Lys5246Ter
ENST00000414277.1:c.112A>T	ENSP00000406205.1:p.Lys38Ter
ENST00000475585.1:n.324A>T
NM_031935.2:c.15736A>T	NP_114141.2:p.Lys5246Ter
XM_011510037.1:c.15451A>T	XP_011508339.1:p.Lys5151Ter
XM_011510038.1:c.15736A>T	XP_011508340.1:p.Lys5246Ter
XM_011510038.3:c.15736A>T	XP_011508340.1:p.Lys5246Ter
XM_017002437.1:c.13759A>T	XP_016857926.1:p.Lys4587Ter
NM_031935.3:c.15736A>T MANE Select	NP_114141.2:p.Lys5246Ter