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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
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Canonical Allele Identifier:
CA347895
Gene: MMUT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218989
ClinVar RCV Id:
RCV000203377
RCV000414057
RCV001193325
RCV001271710
dbSNP Id:
rs772552898
ExAC:
6:49419406 G / A
gnomAD v2:
6-49419406-G-A
gnomAD v3:
6-49451693-G-A
gnomAD v4:
6-49451693-G-A
MyVariant Identifiers:
chr6:g.49419406G>A (hg19)
chr6:g.49451693G>A (hg38)
PubMed:
PMID:20301409
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.49451693G>A , CM000668.2:g.49451693G>A
GRCh38
NC_000006.11:g.49419406G>A , CM000668.1:g.49419406G>A
GRCh37
NC_000006.10:g.49527365G>A
NCBI36
NG_007100.1:g.16447C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000274813.4:c.1105C>T
MANE Select
ENSP00000274813.3:p.Arg369Cys
ENST00000274813.3:c.1105C>T
ENSP00000274813.3:p.Arg369Cys
NM_000255.3:c.1105C>T
NP_000246.2:p.Arg369Cys
XM_005249143.2:c.1105C>T
XP_005249200.1:p.Arg369Cys
XM_005249143.3:c.1105C>T
XP_005249200.1:p.Arg369Cys
NM_000255.4:c.1105C>T
MANE Select
NP_000246.2:p.Arg369Cys
Search 100 bp 5'
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