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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:
CA364399146
Gene: MMUT
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr6:g.49419410A>C (hg19)
chr6:g.49451697A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.49451697A>C , CM000668.2:g.49451697A>C
GRCh38
NC_000006.11:g.49419410A>C , CM000668.1:g.49419410A>C
GRCh37
NC_000006.10:g.49527369A>C
NCBI36
NG_007100.1:g.16443T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000274813.4:c.1101T>G
MANE Select
ENSP00000274813.3:p.Ile367Met
ENST00000274813.3:c.1101T>G
ENSP00000274813.3:p.Ile367Met
NM_000255.3:c.1101T>G
NP_000246.2:p.Ile367Met
XM_005249143.2:c.1101T>G
XP_005249200.1:p.Ile367Met
XM_005249143.3:c.1101T>G
XP_005249200.1:p.Ile367Met
NM_000255.4:c.1101T>G
MANE Select
NP_000246.2:p.Ile367Met
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