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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:
CA249731
Gene: MMUT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1886
ClinVar RCV Id:
RCV000001963
RCV000186055
RCV000203309
RCV000587363
RCV001271716
dbSNP Id:
rs121918256
ExAC:
6:49425502 T / A
gnomAD v2:
6-49425502-T-A
gnomAD v3:
6-49457789-T-A
gnomAD v4:
6-49457789-T-A
MyVariant Identifiers:
chr6:g.49425502T>A (hg19)
chr6:g.49457789T>A (hg38)
PubMed:
PMID:11350191
PMID:11528502
PMID:15643616
PMID:16281286
PMID:17113806
PMID:20301409
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.49457789T>A , CM000668.2:g.49457789T>A
GRCh38
NC_000006.11:g.49425502T>A , CM000668.1:g.49425502T>A
GRCh37
NC_000006.10:g.49533461T>A
NCBI36
NG_007100.1:g.10351A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000274813.4:c.655A>T
MANE Select
ENSP00000274813.3:p.Asn219Tyr
ENST00000274813.3:c.655A>T
ENSP00000274813.3:p.Asn219Tyr
NM_000255.3:c.655A>T
NP_000246.2:p.Asn219Tyr
XM_005249143.2:c.655A>T
XP_005249200.1:p.Asn219Tyr
XM_005249143.3:c.655A>T
XP_005249200.1:p.Asn219Tyr
NM_000255.4:c.655A>T
MANE Select
NP_000246.2:p.Asn219Tyr
Search 100 bp 5'
Search 100 bp 3'