Canonical Allele Identifier: CA3084110441
Community Standard Title: NM_031935.3(HMCN1):c.3552T= (p.Val1184=)
Gene: HMCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.185994861T= , CM000663.2:g.185994861T= GRCh38
NC_000001.10:g.185963993T= , CM000663.1:g.185963993T= GRCh37
NC_000001.9:g.184230616T= NCBI36
NG_011841.1:g.265311T=

Transcript Alleles

HGVS Amino-acid Change
NM_031935.3:c.3552T= MANE Select NP_114141.2:p.Val1184=
ENST00000271588.9:c.3552T= MANE Select ENSP00000271588.4:p.Val1184=
NM_031935.2:c.3552T= NP_114141.2:p.Val1184=
ENST00000271588.8:c.3552T= ENSP00000271588.4:p.Val1184=
XM_011510037.1:c.3552T= XP_011508339.1:p.Val1184=
XM_011510038.1:c.3552T= XP_011508340.1:p.Val1184=
XM_011510038.3:c.3552T= XP_011508340.1:p.Val1184=
XM_011510039.1:c.3552T= XP_011508341.1:p.Val1184=
XM_011510040.1:c.3552T= XP_011508342.1:p.Val1184=
XM_011510041.1:c.3552T= XP_011508343.1:p.Val1184=
XM_011510041.3:c.3552T= XP_011508343.1:p.Val1184=
XM_017002437.1:c.1575T= XP_016857926.1:p.Val525=
XM_024450118.1:c.3552T= XP_024305886.1:p.Val1184=