×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA249725
Gene: MMUT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1877
ClinVar RCV Id:
RCV000001954
RCV000203362
RCV001376600
RCV001553684
RCV001831507
dbSNP Id:
rs121918248
ExAC:
6:49427128 G / A
gnomAD v2:
6-49427128-G-A
gnomAD v3:
6-49459415-G-A
gnomAD v4:
6-49459415-G-A
MyVariant Identifiers:
chr6:g.49427128G>A (hg19)
chr6:g.49459415G>A (hg38)
PubMed:
PMID:1970180
PMID:2881300
PMID:16281286
PMID:20301409
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.49459415G>A , CM000668.2:g.49459415G>A
GRCh38
NC_000006.11:g.49427128G>A , CM000668.1:g.49427128G>A
GRCh37
NC_000006.10:g.49535087G>A
NCBI36
NG_007100.1:g.8725C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000274813.4:c.52C>T
MANE Select
ENSP00000274813.3:p.Gln18Ter
ENST00000274813.3:c.52C>T
ENSP00000274813.3:p.Gln18Ter
NM_000255.3:c.52C>T
NP_000246.2:p.Gln18Ter
XM_005249143.2:c.52C>T
XP_005249200.1:p.Gln18Ter
XM_005249143.3:c.52C>T
XP_005249200.1:p.Gln18Ter
NM_000255.4:c.52C>T
MANE Select
NP_000246.2:p.Gln18Ter
Search 100 bp 5'
Search 100 bp 3'