Canonical Allele Identifier: CA2676345374

Gene: HMMR

Genomic Alleles

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

Transcript Alleles

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