Canonical Allele Identifier: CA362061882

Gene: HMMR

Linked Data

• MyVariant Identifiers: chr5:g.162896649T>G (hg19) ; chr5:g.163469643T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.163469643T>G , CM000667.2:g.163469643T>G	GRCh38
NC_000005.9:g.162896649T>G , CM000667.1:g.162896649T>G	GRCh37
NC_000005.8:g.162829227T>G	NCBI36
NG_023309.1:g.14133T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393915.9:c.276T>G MANE Select	ENSP00000377492.4:p.Ile92Met
ENST00000353866.7:c.228T>G	ENSP00000185942.6:p.Ile76Met
ENST00000358715.3:c.273T>G	ENSP00000351554.3:p.Ile91Met
ENST00000393915.8:c.276T>G	ENSP00000377492.4:p.Ile92Met
ENST00000432118.6:c.15T>G	ENSP00000402673.2:p.Ile5Met
ENST00000517936.1:n.261T>G
ENST00000520345.5:c.-70T>G	ENSP00000428481.1:n.-70T>G
ENST00000522094.5:c.-70T>G	ENSP00000428406.1:n.-70T>G
NM_001142556.1:c.276T>G	NP_001136028.1:p.Ile92Met
NM_001142557.1:c.15T>G	NP_001136029.1:p.Ile5Met
NM_012484.2:c.273T>G	NP_036616.2:p.Ile91Met
NM_012485.2:c.228T>G	NP_036617.2:p.Ile76Met
NM_001142556.2:c.276T>G MANE Select	NP_001136028.1:p.Ile92Met
NM_001142557.2:c.15T>G	NP_001136029.1:p.Ile5Met
NM_012484.3:c.273T>G	NP_036616.2:p.Ile91Met
NM_012485.3:c.228T>G	NP_036617.2:p.Ile76Met