×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA450606666
Gene: MMUT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1085268
ClinVar RCV Id:
RCV001402596
dbSNP Id:
rs1342064032
gnomAD v2:
6-49419413-A-G
gnomAD v3:
6-49451700-A-G
gnomAD v4:
6-49451700-A-G
MyVariant Identifiers:
chr6:g.49419413A>G (hg19)
chr6:g.49451700A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.49451700A>G , CM000668.2:g.49451700A>G
GRCh38
NC_000006.11:g.49419413A>G , CM000668.1:g.49419413A>G
GRCh37
NC_000006.10:g.49527372A>G
NCBI36
NG_007100.1:g.16440T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000274813.4:c.1098T>C
MANE Select
ENSP00000274813.3:p.Asn366=
ENST00000274813.3:c.1098T>C
ENSP00000274813.3:p.Asn366=
NM_000255.3:c.1098T>C
NP_000246.2:p.Asn366=
XM_005249143.2:c.1098T>C
XP_005249200.1:p.Asn366=
XM_005249143.3:c.1098T>C
XP_005249200.1:p.Asn366=
NM_000255.4:c.1098T>C
MANE Select
NP_000246.2:p.Asn366=
Search 100 bp 5'
Search 100 bp 3'