Canonical Allele Identifier: CA364398892
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs761323724
gnomAD v2: 6-49419306-G-A
gnomAD v4: 6-49451593-G-A
MyVariant Identifiers: chr6:g.49419306G>A (hg19) chr6:g.49451593G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451593G>A , CM000668.2:g.49451593G>A GRCh38
NC_000006.11:g.49419306G>A , CM000668.1:g.49419306G>A GRCh37
NC_000006.10:g.49527265G>A NCBI36
NG_007100.1:g.16547C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1205C>T MANE Select ENSP00000274813.3:p.Ala402Val
ENST00000274813.3:c.1205C>T ENSP00000274813.3:p.Ala402Val
NM_000255.3:c.1205C>T NP_000246.2:p.Ala402Val
XM_005249143.2:c.1205C>T XP_005249200.1:p.Ala402Val
XM_005249143.3:c.1205C>T XP_005249200.1:p.Ala402Val
NM_000255.4:c.1205C>T MANE Select NP_000246.2:p.Ala402Val
Search 100 bp 5'
Search 100 bp 3'