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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:
CA364398920
Gene: MMUT
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr6:g.49419318G>T (hg19)
chr6:g.49451605G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.49451605G>T , CM000668.2:g.49451605G>T
GRCh38
NC_000006.11:g.49419318G>T , CM000668.1:g.49419318G>T
GRCh37
NC_000006.10:g.49527277G>T
NCBI36
NG_007100.1:g.16535C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000274813.4:c.1193C>A
MANE Select
ENSP00000274813.3:p.Thr398Asn
ENST00000274813.3:c.1193C>A
ENSP00000274813.3:p.Thr398Asn
NM_000255.3:c.1193C>A
NP_000246.2:p.Thr398Asn
XM_005249143.2:c.1193C>A
XP_005249200.1:p.Thr398Asn
XM_005249143.3:c.1193C>A
XP_005249200.1:p.Thr398Asn
NM_000255.4:c.1193C>A
MANE Select
NP_000246.2:p.Thr398Asn
Search 100 bp 5'
Search 100 bp 3'