Canonical Allele Identifier: CA1291931

Gene: HMCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186001434T>C , CM000663.2:g.186001434T>C	GRCh38
NC_000001.10:g.185970566T>C , CM000663.1:g.185970566T>C	GRCh37
NC_000001.9:g.184237189T>C	NCBI36
NG_011841.1:g.271884T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_031935.3:c.4200+6T>C MANE Select	NP_114141.2:n.4200+6T>C
ENST00000271588.9:c.4200+6T>C MANE Select	ENSP00000271588.4:n.4200+6T>C
NM_031935.2:c.4200+6T>C	NP_114141.2:n.4200+6T>C
ENST00000271588.8:c.4200+6T>C	ENSP00000271588.4:n.4200+6T>C
XM_011510037.1:c.4200+6T>C	XP_011508339.1:n.4200+6T>C
XM_011510038.1:c.4200+6T>C	XP_011508340.1:n.4200+6T>C
XM_011510038.3:c.4200+6T>C	XP_011508340.1:n.4200+6T>C
XM_011510039.1:c.4200+6T>C	XP_011508341.1:n.4200+6T>C
XM_011510040.1:c.4200+6T>C	XP_011508342.1:n.4200+6T>C
XM_011510041.1:c.4200+6T>C	XP_011508343.1:n.4200+6T>C
XM_011510041.3:c.4200+6T>C	XP_011508343.1:n.4200+6T>C
XM_017002437.1:c.2223+6T>C	XP_016857926.1:n.2223+6T>C
XM_024450118.1:c.4200+6T>C	XP_024305886.1:n.4200+6T>C