Canonical Allele Identifier: CA15369743
Gene: HMMR HGNC NCBI
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.163464888G>A , CM000667.2:g.163464888G>A GRCh38
NC_000005.9:g.162891894G>A , CM000667.1:g.162891894G>A GRCh37
NC_000005.8:g.162824472G>A NCBI36
NG_023309.1:g.9378G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393915.9:c.225+86G>A MANE Select ENSP00000377492.4:n.225+86G>A
ENST00000353866.7:c.225+86G>A ENSP00000185942.6:n.225+86G>A
ENST00000358715.3:c.225+86G>A ENSP00000351554.3:n.225+86G>A
ENST00000393915.8:c.225+86G>A ENSP00000377492.4:n.225+86G>A
ENST00000432118.6:c.12+4150G>A ENSP00000402673.2:n.12+4150G>A
ENST00000517936.1:n.258+86G>A
ENST00000520345.5:c.-73+86G>A ENSP00000428481.1:n.-73+86G>A
ENST00000521108.5:n.351G>A
ENST00000522094.5:c.-73+86G>A ENSP00000428406.1:n.-73+86G>A
NM_001142556.1:c.225+86G>A NP_001136028.1:n.225+86G>A
NM_001142557.1:c.12+4150G>A NP_001136029.1:n.12+4150G>A
NM_012484.2:c.225+86G>A NP_036616.2:n.225+86G>A
NM_012485.2:c.225+86G>A NP_036617.2:n.225+86G>A
NM_001142556.2:c.225+86G>A MANE Select NP_001136028.1:n.225+86G>A
NM_001142557.2:c.12+4150G>A NP_001136029.1:n.12+4150G>A
NM_012484.3:c.225+86G>A NP_036616.2:n.225+86G>A
NM_012485.3:c.225+86G>A NP_036617.2:n.225+86G>A