Canonical Allele Identifier: CA2676343707

Gene: HMMR

Linked Data

• gnomAD v4: 5-163469584-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.163469584C>A , CM000667.2:g.163469584C>A	GRCh38
NC_000005.9:g.162896590C>A , CM000667.1:g.162896590C>A	GRCh37
NC_000005.8:g.162829168C>A	NCBI36
NG_023309.1:g.14074C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393915.9:c.274-57C>A MANE Select	ENSP00000377492.4:n.274-57C>A
ENST00000353866.7:c.226-57C>A	ENSP00000185942.6:n.226-57C>A
ENST00000358715.3:c.271-57C>A	ENSP00000351554.3:n.271-57C>A
ENST00000393915.8:c.274-57C>A	ENSP00000377492.4:n.274-57C>A
ENST00000432118.6:c.13-57C>A	ENSP00000402673.2:n.13-57C>A
ENST00000517936.1:n.259-57C>A
ENST00000520345.5:c.-72-57C>A	ENSP00000428481.1:n.-72-57C>A
ENST00000522094.5:c.-72-57C>A	ENSP00000428406.1:n.-72-57C>A
NM_001142556.1:c.274-57C>A	NP_001136028.1:n.274-57C>A
NM_001142557.1:c.13-57C>A	NP_001136029.1:n.13-57C>A
NM_012484.2:c.271-57C>A	NP_036616.2:n.271-57C>A
NM_012485.2:c.226-57C>A	NP_036617.2:n.226-57C>A
NM_001142556.2:c.274-57C>A MANE Select	NP_001136028.1:n.274-57C>A
NM_001142557.2:c.13-57C>A	NP_001136029.1:n.13-57C>A
NM_012484.3:c.271-57C>A	NP_036616.2:n.271-57C>A
NM_012485.3:c.226-57C>A	NP_036617.2:n.226-57C>A