Canonical Allele Identifier: CA364404845
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 557041
ClinVar RCV Id: RCV000673129 RCV001384679
dbSNP Id: rs1192889987
gnomAD v4: 6-49459080-A-G
MyVariant Identifiers: chr6:g.49426793A>G (hg19) chr6:g.49459080A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459080A>G , CM000668.2:g.49459080A>G GRCh38
NC_000006.11:g.49426793A>G , CM000668.1:g.49426793A>G GRCh37
NC_000006.10:g.49534752A>G NCBI36
NG_007100.1:g.9060T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.385+2T>C MANE Select ENSP00000274813.3:n.385+2T>C
ENST00000274813.3:c.385+2T>C ENSP00000274813.3:n.385+2T>C
NM_000255.3:c.385+2T>C NP_000246.2:n.385+2T>C
XM_005249143.2:c.385+2T>C XP_005249200.1:n.385+2T>C
XM_005249143.3:c.385+2T>C XP_005249200.1:n.385+2T>C
NM_000255.4:c.385+2T>C MANE Select NP_000246.2:n.385+2T>C
Search 100 bp 5'
Search 100 bp 3'