Canonical Allele Identifier: CA3545812

Gene: HMMR

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.163475510T>C , CM000667.2:g.163475510T>C	GRCh38
NC_000005.9:g.162902516T>C , CM000667.1:g.162902516T>C	GRCh37
NC_000005.8:g.162835094T>C	NCBI36
NG_023309.1:g.20000T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393915.9:c.1106T>C MANE Select	ENSP00000377492.4:p.Val369Ala
ENST00000353866.7:c.1058T>C	ENSP00000185942.6:p.Val353Ala
ENST00000358715.3:c.1103T>C	ENSP00000351554.3:p.Val368Ala
ENST00000393915.8:c.1106T>C	ENSP00000377492.4:p.Val369Ala
ENST00000432118.6:c.845T>C	ENSP00000402673.2:p.Val282Ala
NM_001142556.1:c.1106T>C	NP_001136028.1:p.Val369Ala
NM_001142557.1:c.845T>C	NP_001136029.1:p.Val282Ala
NM_012484.2:c.1103T>C	NP_036616.2:p.Val368Ala
NM_012485.2:c.1058T>C	NP_036617.2:p.Val353Ala
NM_001142556.2:c.1106T>C MANE Select	NP_001136028.1:p.Val369Ala
NM_001142557.2:c.845T>C	NP_001136029.1:p.Val282Ala
NM_012484.3:c.1103T>C	NP_036616.2:p.Val368Ala
NM_012485.3:c.1058T>C	NP_036617.2:p.Val353Ala