Canonical Allele Identifier: CA362061884

Gene: HMMR

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.163469644C>A , CM000667.2:g.163469644C>A	GRCh38
NC_000005.9:g.162896650C>A , CM000667.1:g.162896650C>A	GRCh37
NC_000005.8:g.162829228C>A	NCBI36
NG_023309.1:g.14134C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393915.9:c.277C>A MANE Select	ENSP00000377492.4:p.Arg93Ser
ENST00000353866.7:c.229C>A	ENSP00000185942.6:p.Arg77Ser
ENST00000358715.3:c.274C>A	ENSP00000351554.3:p.Arg92Ser
ENST00000393915.8:c.277C>A	ENSP00000377492.4:p.Arg93Ser
ENST00000432118.6:c.16C>A	ENSP00000402673.2:p.Arg6Ser
ENST00000517936.1:n.262C>A
ENST00000520345.5:c.-69C>A	ENSP00000428481.1:n.-69C>A
ENST00000522094.5:c.-69C>A	ENSP00000428406.1:n.-69C>A
NM_001142556.1:c.277C>A	NP_001136028.1:p.Arg93Ser
NM_001142557.1:c.16C>A	NP_001136029.1:p.Arg6Ser
NM_012484.2:c.274C>A	NP_036616.2:p.Arg92Ser
NM_012485.2:c.229C>A	NP_036617.2:p.Arg77Ser
NM_001142556.2:c.277C>A MANE Select	NP_001136028.1:p.Arg93Ser
NM_001142557.2:c.16C>A	NP_001136029.1:p.Arg6Ser
NM_012484.3:c.274C>A	NP_036616.2:p.Arg92Ser
NM_012485.3:c.229C>A	NP_036617.2:p.Arg77Ser