Canonical Allele Identifier: CA343870840
Gene: HMCN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.185994859G>C , CM000663.2:g.185994859G>C GRCh38
NC_000001.10:g.185963991G>C , CM000663.1:g.185963991G>C GRCh37
NC_000001.9:g.184230614G>C NCBI36
NG_011841.1:g.265309G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.3550G>C MANE Select ENSP00000271588.4:p.Val1184Leu
ENST00000271588.8:c.3550G>C ENSP00000271588.4:p.Val1184Leu
NM_031935.2:c.3550G>C NP_114141.2:p.Val1184Leu
XM_011510037.1:c.3550G>C XP_011508339.1:p.Val1184Leu
XM_011510038.1:c.3550G>C XP_011508340.1:p.Val1184Leu
XM_011510039.1:c.3550G>C XP_011508341.1:p.Val1184Leu
XM_011510040.1:c.3550G>C XP_011508342.1:p.Val1184Leu
XM_011510041.1:c.3550G>C XP_011508343.1:p.Val1184Leu
XM_011510038.3:c.3550G>C XP_011508340.1:p.Val1184Leu
XM_011510041.3:c.3550G>C XP_011508343.1:p.Val1184Leu
XM_017002437.1:c.1573G>C XP_016857926.1:p.Val525Leu
XM_024450118.1:c.3550G>C XP_024305886.1:p.Val1184Leu
NM_031935.3:c.3550G>C MANE Select NP_114141.2:p.Val1184Leu