Canonical Allele Identifier: CA364398900
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49451596-C-T
MyVariant Identifiers: chr6:g.49419309C>T (hg19) chr6:g.49451596C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451596C>T , CM000668.2:g.49451596C>T GRCh38
NC_000006.11:g.49419309C>T , CM000668.1:g.49419309C>T GRCh37
NC_000006.10:g.49527268C>T NCBI36
NG_007100.1:g.16544G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1202G>A MANE Select ENSP00000274813.3:p.Ser401Asn
ENST00000274813.3:c.1202G>A ENSP00000274813.3:p.Ser401Asn
NM_000255.3:c.1202G>A NP_000246.2:p.Ser401Asn
XM_005249143.2:c.1202G>A XP_005249200.1:p.Ser401Asn
XM_005249143.3:c.1202G>A XP_005249200.1:p.Ser401Asn
NM_000255.4:c.1202G>A MANE Select NP_000246.2:p.Ser401Asn
Search 100 bp 5'
Search 100 bp 3'