Canonical Allele Identifier: CA422513838
Gene: HMCN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.186064628C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.10548C>T MANE Select ENSP00000271588.4:p.Ser3516=
ENST00000271588.8:c.10548C>T ENSP00000271588.4:p.Ser3516=
NM_031935.2:c.10548C>T NP_114141.2:p.Ser3516=
XM_011510037.1:c.10263C>T XP_011508339.1:p.Ser3421=
XM_011510038.1:c.10548C>T XP_011508340.1:p.Ser3516=
XM_011510039.1:c.10548C>T XP_011508341.1:p.Ser3516=
XM_011510038.3:c.10548C>T XP_011508340.1:p.Ser3516=
XM_017002437.1:c.8571C>T XP_016857926.1:p.Ser2857=
NM_031935.3:c.10548C>T MANE Select NP_114141.2:p.Ser3516=