Canonical Allele Identifier: CA3846939
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 554410
ClinVar RCV Id: RCV000670037
dbSNP Id: rs576536579
ExAC: 6:49419292 T / A
gnomAD v2: 6-49419292-T-A
gnomAD v3: 6-49451579-T-A
gnomAD v4: 6-49451579-T-A
MyVariant Identifiers: chr6:g.49419292T>A (hg19) chr6:g.49451579T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451579T>A , CM000668.2:g.49451579T>A GRCh38
NC_000006.11:g.49419292T>A , CM000668.1:g.49419292T>A GRCh37
NC_000006.10:g.49527251T>A NCBI36
NG_007100.1:g.16561A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1219A>T MANE Select ENSP00000274813.3:p.Asn407Tyr
ENST00000274813.3:c.1219A>T ENSP00000274813.3:p.Asn407Tyr
NM_000255.3:c.1219A>T NP_000246.2:p.Asn407Tyr
XM_005249143.2:c.1219A>T XP_005249200.1:p.Asn407Tyr
XM_005249143.3:c.1219A>T XP_005249200.1:p.Asn407Tyr
NM_000255.4:c.1219A>T MANE Select NP_000246.2:p.Asn407Tyr
Search 100 bp 5'
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