Canonical Allele Identifier: CA2649561863
Gene: HMCN1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186171959G>T , CM000663.2:g.186171959G>T GRCh38
NC_000001.10:g.186141091G>T , CM000663.1:g.186141091G>T GRCh37
NC_000001.9:g.184407714G>T NCBI36
NG_011841.1:g.442409G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.15689-47G>T MANE Select ENSP00000271588.4:n.15689-47G>T
ENST00000271588.8:c.15689-47G>T ENSP00000271588.4:n.15689-47G>T
ENST00000414277.1:c.65-47G>T ENSP00000406205.1:n.65-47G>T
ENST00000475585.1:n.277-47G>T
NM_031935.2:c.15689-47G>T NP_114141.2:n.15689-47G>T
XM_011510037.1:c.15404-47G>T XP_011508339.1:n.15404-47G>T
XM_011510038.1:c.15689-47G>T XP_011508340.1:n.15689-47G>T
XM_011510038.3:c.15689-47G>T XP_011508340.1:n.15689-47G>T
XM_017002437.1:c.13712-47G>T XP_016857926.1:n.13712-47G>T
NM_031935.3:c.15689-47G>T MANE Select NP_114141.2:n.15689-47G>T