Canonical Allele Identifier: CA3846636
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs771224892
ExAC: 6:49399536 T / C
gnomAD v2: 6-49399536-T-C
gnomAD v4: 6-49431823-T-C
MyVariant Identifiers: chr6:g.49399536T>C (hg19) chr6:g.49431823T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49431823T>C , CM000668.2:g.49431823T>C GRCh38
NC_000006.11:g.49399536T>C , CM000668.1:g.49399536T>C GRCh37
NC_000006.10:g.49507495T>C NCBI36
NG_007100.1:g.36317A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.2158A>G MANE Select ENSP00000274813.3:p.Asn720Asp
ENST00000274813.3:c.2158A>G ENSP00000274813.3:p.Asn720Asp
NM_000255.3:c.2158A>G NP_000246.2:p.Asn720Asp
XM_005249143.2:c.2158A>G XP_005249200.1:p.Asn720Asp
XM_005249143.3:c.2158A>G XP_005249200.1:p.Asn720Asp
NM_000255.4:c.2158A>G MANE Select NP_000246.2:p.Asn720Asp
Search 100 bp 5'
Search 100 bp 3'