Canonical Allele Identifier: CA364583031
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49431831-C-G
MyVariant Identifiers: chr6:g.49399544C>G (hg19) chr6:g.49431831C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49431831C>G , CM000668.2:g.49431831C>G GRCh38
NC_000006.11:g.49399544C>G , CM000668.1:g.49399544C>G GRCh37
NC_000006.10:g.49507503C>G NCBI36
NG_007100.1:g.36309G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.2150G>C MANE Select ENSP00000274813.3:p.Gly717Ala
ENST00000274813.3:c.2150G>C ENSP00000274813.3:p.Gly717Ala
NM_000255.3:c.2150G>C NP_000246.2:p.Gly717Ala
XM_005249143.2:c.2150G>C XP_005249200.1:p.Gly717Ala
XM_005249143.3:c.2150G>C XP_005249200.1:p.Gly717Ala
NM_000255.4:c.2150G>C MANE Select NP_000246.2:p.Gly717Ala
Search 100 bp 5'
Search 100 bp 3'