Canonical Allele Identifier: CA364398741
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 2919978
ClinVar RCV Id: RCV003736102
dbSNP Id: rs1368171478
gnomAD v2: 6-49419232-C-T
gnomAD v4: 6-49451519-C-T
MyVariant Identifiers: chr6:g.49419232C>T (hg19) chr6:g.49451519C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451519C>T , CM000668.2:g.49451519C>T GRCh38
NC_000006.11:g.49419232C>T , CM000668.1:g.49419232C>T GRCh37
NC_000006.10:g.49527191C>T NCBI36
NG_007100.1:g.16621G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1279G>A MANE Select ENSP00000274813.3:p.Gly427Ser
ENST00000274813.3:c.1279G>A ENSP00000274813.3:p.Gly427Ser
NM_000255.3:c.1279G>A NP_000246.2:p.Gly427Ser
XM_005249143.2:c.1279G>A XP_005249200.1:p.Gly427Ser
XM_005249143.3:c.1279G>A XP_005249200.1:p.Gly427Ser
NM_000255.4:c.1279G>A MANE Select NP_000246.2:p.Gly427Ser
Search 100 bp 5'
Search 100 bp 3'