Canonical Allele Identifier: CA422334619
Gene: HMCN1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186172049C>T , CM000663.2:g.186172049C>T GRCh38
NC_000001.10:g.186141181C>T , CM000663.1:g.186141181C>T GRCh37
NC_000001.9:g.184407804C>T NCBI36
NG_011841.1:g.442499C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.15732C>T MANE Select ENSP00000271588.4:p.His5244=
ENST00000271588.8:c.15732C>T ENSP00000271588.4:p.His5244=
ENST00000414277.1:c.108C>T ENSP00000406205.1:p.His36=
ENST00000475585.1:n.320C>T
NM_031935.2:c.15732C>T NP_114141.2:p.His5244=
XM_011510037.1:c.15447C>T XP_011508339.1:p.His5149=
XM_011510038.1:c.15732C>T XP_011508340.1:p.His5244=
XM_011510038.3:c.15732C>T XP_011508340.1:p.His5244=
XM_017002437.1:c.13755C>T XP_016857926.1:p.His4585=
NM_031935.3:c.15732C>T MANE Select NP_114141.2:p.His5244=