Canonical Allele Identifier: CA362061872

Gene: HMMR

Linked Data

• dbSNP Id: rs200429880
• MyVariant Identifiers: chr5:g.162896647A>C (hg19) ; chr5:g.163469641A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.163469641A>C , CM000667.2:g.163469641A>C	GRCh38
NC_000005.9:g.162896647A>C , CM000667.1:g.162896647A>C	GRCh37
NC_000005.8:g.162829225A>C	NCBI36
NG_023309.1:g.14131A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393915.9:c.274A>C MANE Select	ENSP00000377492.4:p.Ile92Leu
ENST00000353866.7:c.226A>C	ENSP00000185942.6:p.Ile76Leu
ENST00000358715.3:c.271A>C	ENSP00000351554.3:p.Ile91Leu
ENST00000393915.8:c.274A>C	ENSP00000377492.4:p.Ile92Leu
ENST00000432118.6:c.13A>C	ENSP00000402673.2:p.Ile5Leu
ENST00000517936.1:n.259A>C
ENST00000520345.5:c.-72A>C	ENSP00000428481.1:n.-72A>C
ENST00000522094.5:c.-72A>C	ENSP00000428406.1:n.-72A>C
NM_001142556.1:c.274A>C	NP_001136028.1:p.Ile92Leu
NM_001142557.1:c.13A>C	NP_001136029.1:p.Ile5Leu
NM_012484.2:c.271A>C	NP_036616.2:p.Ile91Leu
NM_012485.2:c.226A>C	NP_036617.2:p.Ile76Leu
NM_001142556.2:c.274A>C MANE Select	NP_001136028.1:p.Ile92Leu
NM_001142557.2:c.13A>C	NP_001136029.1:p.Ile5Leu
NM_012484.3:c.271A>C	NP_036616.2:p.Ile91Leu
NM_012485.3:c.226A>C	NP_036617.2:p.Ile76Leu