Canonical Allele Identifier: CA364404008
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 1019108
ClinVar RCV Id: RCV001318496
dbSNP Id: rs1442489589
gnomAD v2: 6-49425457-G-A
gnomAD v4: 6-49457744-G-A
COSMIC: COSM3628250
MyVariant Identifiers: chr6:g.49425457G>A (hg19) chr6:g.49457744G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457744G>A , CM000668.2:g.49457744G>A GRCh38
NC_000006.11:g.49425457G>A , CM000668.1:g.49425457G>A GRCh37
NC_000006.10:g.49533416G>A NCBI36
NG_007100.1:g.10396C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.700C>T MANE Select ENSP00000274813.3:p.Pro234Ser
ENST00000274813.3:c.700C>T ENSP00000274813.3:p.Pro234Ser
NM_000255.3:c.700C>T NP_000246.2:p.Pro234Ser
XM_005249143.2:c.700C>T XP_005249200.1:p.Pro234Ser
XM_005249143.3:c.700C>T XP_005249200.1:p.Pro234Ser
NM_000255.4:c.700C>T MANE Select NP_000246.2:p.Pro234Ser
Search 100 bp 5'
Search 100 bp 3'