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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:
CA364404436
Gene: MMUT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
909695
ClinVar RCV Id:
RCV001160921
dbSNP Id:
rs760782399
MyVariant Identifiers:
chr6:g.49425585G>A (hg19)
chr6:g.49457872G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.49457872G>A , CM000668.2:g.49457872G>A
GRCh38
NC_000006.11:g.49425585G>A , CM000668.1:g.49425585G>A
GRCh37
NC_000006.10:g.49533544G>A
NCBI36
NG_007100.1:g.10268C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000274813.4:c.572C>T
MANE Select
ENSP00000274813.3:p.Ala191Val
ENST00000274813.3:c.572C>T
ENSP00000274813.3:p.Ala191Val
NM_000255.3:c.572C>T
NP_000246.2:p.Ala191Val
XM_005249143.2:c.572C>T
XP_005249200.1:p.Ala191Val
XM_005249143.3:c.572C>T
XP_005249200.1:p.Ala191Val
NM_000255.4:c.572C>T
MANE Select
NP_000246.2:p.Ala191Val
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