Canonical Allele Identifier: CA3847131
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 2992239
ClinVar RCV Id: RCV003855366
dbSNP Id: rs771331648
ExAC: 6:49426784 T / G
gnomAD v2: 6-49426784-T-G
gnomAD v3: 6-49459071-T-G
gnomAD v4: 6-49459071-T-G
MyVariant Identifiers: chr6:g.49426784T>G (hg19) chr6:g.49459071T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459071T>G , CM000668.2:g.49459071T>G GRCh38
NC_000006.11:g.49426784T>G , CM000668.1:g.49426784T>G GRCh37
NC_000006.10:g.49534743T>G NCBI36
NG_007100.1:g.9069A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.385+11A>C MANE Select ENSP00000274813.3:n.385+11A>C
ENST00000274813.3:c.385+11A>C ENSP00000274813.3:n.385+11A>C
NM_000255.3:c.385+11A>C NP_000246.2:n.385+11A>C
XM_005249143.2:c.385+11A>C XP_005249200.1:n.385+11A>C
XM_005249143.3:c.385+11A>C XP_005249200.1:n.385+11A>C
NM_000255.4:c.385+11A>C MANE Select NP_000246.2:n.385+11A>C
Search 100 bp 5'
Search 100 bp 3'