Canonical Allele Identifier: CA34030531
Gene: HMCN1 HGNC NCBI

Linked Data

dbSNP Id: rs13375391
gnomAD v2: 1-185794883-G-A
gnomAD v3: 1-185825751-G-A
gnomAD v4: 1-185825751-G-A
MyVariant Identifiers: chr1:g.185794883G>A (hg19) chr1:g.185825751G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.185825751G>A , CM000663.2:g.185825751G>A GRCh38
NC_000001.10:g.185794883G>A , CM000663.1:g.185794883G>A GRCh37
NC_000001.9:g.184061506G>A NCBI36
NG_011841.1:g.96201G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.269-20275G>A MANE Select ENSP00000271588.4:n.269-20275G>A
ENST00000271588.8:c.269-20275G>A ENSP00000271588.4:n.269-20275G>A
NM_031935.2:c.269-20275G>A NP_114141.2:n.269-20275G>A
XM_011510037.1:c.269-20275G>A XP_011508339.1:n.269-20275G>A
XM_011510038.1:c.269-20275G>A XP_011508340.1:n.269-20275G>A
XM_011510039.1:c.269-20275G>A XP_011508341.1:n.269-20275G>A
XM_011510040.1:c.269-20275G>A XP_011508342.1:n.269-20275G>A
XM_011510041.1:c.269-20275G>A XP_011508343.1:n.269-20275G>A
XM_011510038.3:c.269-20275G>A XP_011508340.1:n.269-20275G>A
XM_011510041.3:c.269-20275G>A XP_011508343.1:n.269-20275G>A
XM_024450118.1:c.269-20275G>A XP_024305886.1:n.269-20275G>A
NM_031935.3:c.269-20275G>A MANE Select NP_114141.2:n.269-20275G>A
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