Canonical Allele Identifier: CA1290783

Gene: HMCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.185846006T>C , CM000663.2:g.185846006T>C	GRCh38
NC_000001.10:g.185815138T>C , CM000663.1:g.185815138T>C	GRCh37
NC_000001.9:g.184081761T>C	NCBI36
NG_011841.1:g.116456T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_031935.3:c.269-20T>C MANE Select	NP_114141.2:n.269-20T>C
ENST00000271588.9:c.269-20T>C MANE Select	ENSP00000271588.4:n.269-20T>C
NM_031935.2:c.269-20T>C	NP_114141.2:n.269-20T>C
ENST00000271588.8:c.269-20T>C	ENSP00000271588.4:n.269-20T>C
XM_011510037.1:c.269-20T>C	XP_011508339.1:n.269-20T>C
XM_011510038.1:c.269-20T>C	XP_011508340.1:n.269-20T>C
XM_011510038.3:c.269-20T>C	XP_011508340.1:n.269-20T>C
XM_011510039.1:c.269-20T>C	XP_011508341.1:n.269-20T>C
XM_011510040.1:c.269-20T>C	XP_011508342.1:n.269-20T>C
XM_011510041.1:c.269-20T>C	XP_011508343.1:n.269-20T>C
XM_011510041.3:c.269-20T>C	XP_011508343.1:n.269-20T>C
XM_024450118.1:c.269-20T>C	XP_024305886.1:n.269-20T>C