Canonical Allele Identifier: CA15383070
Gene: HMMR HGNC NCBI

Linked Data

dbSNP Id: rs7712023
gnomAD v2: 5-162889958-A-T
gnomAD v3: 5-163462952-A-T
gnomAD v4: 5-163462952-A-T
MyVariant Identifiers: chr5:g.162889958A>T (hg19) chr5:g.163462952A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.163462952A>T , CM000667.2:g.163462952A>T GRCh38
NC_000005.9:g.162889958A>T , CM000667.1:g.162889958A>T GRCh37
NC_000005.8:g.162822536A>T NCBI36
NG_023309.1:g.7442A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393915.9:c.47-904A>T MANE Select ENSP00000377492.4:n.47-904A>T
ENST00000353866.7:c.47-904A>T ENSP00000185942.6:n.47-904A>T
ENST00000358715.3:c.47-904A>T ENSP00000351554.3:n.47-904A>T
ENST00000393915.8:c.47-904A>T ENSP00000377492.4:n.47-904A>T
ENST00000432118.6:c.12+2214A>T ENSP00000402673.2:n.12+2214A>T
ENST00000517936.1:n.80-904A>T
ENST00000520345.5:c.-251-904A>T ENSP00000428481.1:n.-251-904A>T
ENST00000521108.5:n.87-904A>T
ENST00000522094.5:c.-251-904A>T ENSP00000428406.1:n.-251-904A>T
NM_001142556.1:c.47-904A>T NP_001136028.1:n.47-904A>T
NM_001142557.1:c.12+2214A>T NP_001136029.1:n.12+2214A>T
NM_012484.2:c.47-904A>T NP_036616.2:n.47-904A>T
NM_012485.2:c.47-904A>T NP_036617.2:n.47-904A>T
NM_001142556.2:c.47-904A>T MANE Select NP_001136028.1:n.47-904A>T
NM_001142557.2:c.12+2214A>T NP_001136029.1:n.12+2214A>T
NM_012484.3:c.47-904A>T NP_036616.2:n.47-904A>T
NM_012485.3:c.47-904A>T NP_036617.2:n.47-904A>T
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