Canonical Allele Identifier: CA3847092
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs761961877
ExAC: 6:49425596 A / C
gnomAD v2: 6-49425596-A-C
gnomAD v4: 6-49457883-A-C
MyVariant Identifiers: chr6:g.49425596A>C (hg19) chr6:g.49457883A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457883A>C , CM000668.2:g.49457883A>C GRCh38
NC_000006.11:g.49425596A>C , CM000668.1:g.49425596A>C GRCh37
NC_000006.10:g.49533555A>C NCBI36
NG_007100.1:g.10257T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.561T>G MANE Select ENSP00000274813.3:p.Thr187=
ENST00000274813.3:c.561T>G ENSP00000274813.3:p.Thr187=
NM_000255.3:c.561T>G NP_000246.2:p.Thr187=
XM_005249143.2:c.561T>G XP_005249200.1:p.Thr187=
XM_005249143.3:c.561T>G XP_005249200.1:p.Thr187=
NM_000255.4:c.561T>G MANE Select NP_000246.2:p.Thr187=
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