Canonical Allele Identifier: CA825483476
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1278137995
gnomAD v3: 6-49459013-C-T
gnomAD v4: 6-49459013-C-T
MyVariant Identifiers: chr6:g.49426726C>T (hg19) chr6:g.49459013C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459013C>T , CM000668.2:g.49459013C>T GRCh38
NC_000006.11:g.49426726C>T , CM000668.1:g.49426726C>T GRCh37
NC_000006.10:g.49534685C>T NCBI36
NG_007100.1:g.9127G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.385+69G>A MANE Select ENSP00000274813.3:n.385+69G>A
ENST00000274813.3:c.385+69G>A ENSP00000274813.3:n.385+69G>A
NM_000255.3:c.385+69G>A NP_000246.2:n.385+69G>A
XM_005249143.2:c.385+69G>A XP_005249200.1:n.385+69G>A
XM_005249143.3:c.385+69G>A XP_005249200.1:n.385+69G>A
NM_000255.4:c.385+69G>A MANE Select NP_000246.2:n.385+69G>A
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