Canonical Allele Identifier: CA2679047382
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49457654-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457654G>T , CM000668.2:g.49457654G>T GRCh38
NC_000006.11:g.49425367G>T , CM000668.1:g.49425367G>T GRCh37
NC_000006.10:g.49533326G>T NCBI36
NG_007100.1:g.10486C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.753+37C>A MANE Select ENSP00000274813.3:n.753+37C>A
ENST00000274813.3:c.753+37C>A ENSP00000274813.3:n.753+37C>A
NM_000255.3:c.753+37C>A NP_000246.2:n.753+37C>A
XM_005249143.2:c.753+37C>A XP_005249200.1:n.753+37C>A
XM_005249143.3:c.753+37C>A XP_005249200.1:n.753+37C>A
NM_000255.4:c.753+37C>A MANE Select NP_000246.2:n.753+37C>A