Canonical Allele Identifier: CA3846874
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs748997051
ExAC: 6:49415531 A / C
gnomAD v2: 6-49415531-A-C
gnomAD v4: 6-49447818-A-C
MyVariant Identifiers: chr6:g.49415531A>C (hg19) chr6:g.49447818A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447818A>C , CM000668.2:g.49447818A>C GRCh38
NC_000006.11:g.49415531A>C , CM000668.1:g.49415531A>C GRCh37
NC_000006.10:g.49523490A>C NCBI36
NG_007100.1:g.20322T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1445-33T>G MANE Select ENSP00000274813.3:n.1445-33T>G
ENST00000274813.3:c.1445-33T>G ENSP00000274813.3:n.1445-33T>G
NM_000255.3:c.1445-33T>G NP_000246.2:n.1445-33T>G
XM_005249143.2:c.1445-33T>G XP_005249200.1:n.1445-33T>G
XM_005249143.3:c.1445-33T>G XP_005249200.1:n.1445-33T>G
NM_000255.4:c.1445-33T>G MANE Select NP_000246.2:n.1445-33T>G
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