Canonical Allele Identifier: CA130888886

Gene: HMMR

Linked Data

• dbSNP Id: rs538214275
• gnomAD v3: 5-163469556-A-G
• gnomAD v4: 5-163469556-A-G
• MyVariant Identifiers: chr5:g.162896562A>G (hg19) ; chr5:g.163469556A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.163469556A>G , CM000667.2:g.163469556A>G	GRCh38
NC_000005.9:g.162896562A>G , CM000667.1:g.162896562A>G	GRCh37
NC_000005.8:g.162829140A>G	NCBI36
NG_023309.1:g.14046A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393915.9:c.274-85A>G MANE Select	ENSP00000377492.4:n.274-85A>G
ENST00000353866.7:c.226-85A>G	ENSP00000185942.6:n.226-85A>G
ENST00000358715.3:c.271-85A>G	ENSP00000351554.3:n.271-85A>G
ENST00000393915.8:c.274-85A>G	ENSP00000377492.4:n.274-85A>G
ENST00000432118.6:c.13-85A>G	ENSP00000402673.2:n.13-85A>G
ENST00000517936.1:n.259-85A>G
ENST00000520345.5:c.-72-85A>G	ENSP00000428481.1:n.-72-85A>G
ENST00000522094.5:c.-72-85A>G	ENSP00000428406.1:n.-72-85A>G
NM_001142556.1:c.274-85A>G	NP_001136028.1:n.274-85A>G
NM_001142557.1:c.13-85A>G	NP_001136029.1:n.13-85A>G
NM_012484.2:c.271-85A>G	NP_036616.2:n.271-85A>G
NM_012485.2:c.226-85A>G	NP_036617.2:n.226-85A>G
NM_001142556.2:c.274-85A>G MANE Select	NP_001136028.1:n.274-85A>G
NM_001142557.2:c.13-85A>G	NP_001136029.1:n.13-85A>G
NM_012484.3:c.271-85A>G	NP_036616.2:n.271-85A>G
NM_012485.3:c.226-85A>G	NP_036617.2:n.226-85A>G