Canonical Allele Identifier: CA364405452
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1767776472
gnomAD v3: 6-49459280-T-G
gnomAD v4: 6-49459280-T-G
MyVariant Identifiers: chr6:g.49426993T>G (hg19) chr6:g.49459280T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459280T>G , CM000668.2:g.49459280T>G GRCh38
NC_000006.11:g.49426993T>G , CM000668.1:g.49426993T>G GRCh37
NC_000006.10:g.49534952T>G NCBI36
NG_007100.1:g.8860A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.187A>C MANE Select ENSP00000274813.3:p.Thr63Pro
ENST00000274813.3:c.187A>C ENSP00000274813.3:p.Thr63Pro
NM_000255.3:c.187A>C NP_000246.2:p.Thr63Pro
XM_005249143.2:c.187A>C XP_005249200.1:p.Thr63Pro
XM_005249143.3:c.187A>C XP_005249200.1:p.Thr63Pro
NM_000255.4:c.187A>C MANE Select NP_000246.2:p.Thr63Pro
Search 100 bp 5'
Search 100 bp 3'