Canonical Allele Identifier: CA566931283
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1252115555
gnomAD v2: 6-49425854-G-T
gnomAD v3: 6-49458141-G-T
gnomAD v4: 6-49458141-G-T
MyVariant Identifiers: chr6:g.49425854G>T (hg19) chr6:g.49458141G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49458141G>T , CM000668.2:g.49458141G>T GRCh38
NC_000006.11:g.49425854G>T , CM000668.1:g.49425854G>T GRCh37
NC_000006.10:g.49533813G>T NCBI36
NG_007100.1:g.9999C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.386-83C>A MANE Select ENSP00000274813.3:n.386-83C>A
ENST00000274813.3:c.386-83C>A ENSP00000274813.3:n.386-83C>A
NM_000255.3:c.386-83C>A NP_000246.2:n.386-83C>A
XM_005249143.2:c.386-83C>A XP_005249200.1:n.386-83C>A
XM_005249143.3:c.386-83C>A XP_005249200.1:n.386-83C>A
NM_000255.4:c.386-83C>A MANE Select NP_000246.2:n.386-83C>A
Search 100 bp 5'
Search 100 bp 3'