Canonical Allele Identifier: CA450606240
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 1155439
ClinVar RCV Id: RCV001497755
dbSNP Id: rs2127417901
gnomAD v4: 6-49451526-A-G
MyVariant Identifiers: chr6:g.49419239A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451526A>G , CM000668.2:g.49451526A>G GRCh38
NC_000006.11:g.49419239A>G , CM000668.1:g.49419239A>G GRCh37
NC_000006.10:g.49527198A>G NCBI36
NG_007100.1:g.16614T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1272T>C MANE Select ENSP00000274813.3:p.Pro424=
ENST00000274813.3:c.1272T>C ENSP00000274813.3:p.Pro424=
NM_000255.3:c.1272T>C NP_000246.2:p.Pro424=
XM_005249143.2:c.1272T>C XP_005249200.1:p.Pro424=
XM_005249143.3:c.1272T>C XP_005249200.1:p.Pro424=
NM_000255.4:c.1272T>C MANE Select NP_000246.2:p.Pro424=
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