Canonical Allele Identifier: CA3847168
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 523066
ClinVar RCV Id: RCV000626275 RCV002529786
dbSNP Id: rs575038087
ExAC: 6:49426989 G / A
gnomAD v2: 6-49426989-G-A
gnomAD v3: 6-49459276-G-A
gnomAD v4: 6-49459276-G-A
COSMIC: COSM396781
MyVariant Identifiers: chr6:g.49426989G>A (hg19) chr6:g.49459276G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459276G>A , CM000668.2:g.49459276G>A GRCh38
NC_000006.11:g.49426989G>A , CM000668.1:g.49426989G>A GRCh37
NC_000006.10:g.49534948G>A NCBI36
NG_007100.1:g.8864C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.191C>T MANE Select ENSP00000274813.3:p.Pro64Leu
ENST00000274813.3:c.191C>T ENSP00000274813.3:p.Pro64Leu
NM_000255.3:c.191C>T NP_000246.2:p.Pro64Leu
XM_005249143.2:c.191C>T XP_005249200.1:p.Pro64Leu
XM_005249143.3:c.191C>T XP_005249200.1:p.Pro64Leu
NM_000255.4:c.191C>T MANE Select NP_000246.2:p.Pro64Leu
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