Canonical Allele Identifier: CA1597027546
Gene: HMMR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.163478574G>C , CM000667.2:g.163478574G>C GRCh38
NC_000005.9:g.162905580G>C , CM000667.1:g.162905580G>C GRCh37
NC_000005.8:g.162838158G>C NCBI36
NG_023309.1:g.23064G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393915.9:c.1269-110G>C MANE Select ENSP00000377492.4:n.1269-110G>C
ENST00000353866.7:c.1221-110G>C ENSP00000185942.6:n.1221-110G>C
ENST00000358715.3:c.1266-110G>C ENSP00000351554.3:n.1266-110G>C
ENST00000393915.8:c.1269-110G>C ENSP00000377492.4:n.1269-110G>C
ENST00000432118.6:c.1008-110G>C ENSP00000402673.2:n.1008-110G>C
NM_001142556.1:c.1269-110G>C NP_001136028.1:n.1269-110G>C
NM_001142557.1:c.1008-110G>C NP_001136029.1:n.1008-110G>C
NM_012484.2:c.1266-110G>C NP_036616.2:n.1266-110G>C
NM_012485.2:c.1221-110G>C NP_036617.2:n.1221-110G>C
NM_001142556.2:c.1269-110G>C MANE Select NP_001136028.1:n.1269-110G>C
NM_001142557.2:c.1008-110G>C NP_001136029.1:n.1008-110G>C
NM_012484.3:c.1266-110G>C NP_036616.2:n.1266-110G>C
NM_012485.3:c.1221-110G>C NP_036617.2:n.1221-110G>C