Canonical Allele Identifier: CA3847156
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs759351751
ExAC: 6:49426946 A / G
gnomAD v2: 6-49426946-A-G
gnomAD v4: 6-49459233-A-G
MyVariant Identifiers: chr6:g.49426946A>G (hg19) chr6:g.49459233A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459233A>G , CM000668.2:g.49459233A>G GRCh38
NC_000006.11:g.49426946A>G , CM000668.1:g.49426946A>G GRCh37
NC_000006.10:g.49534905A>G NCBI36
NG_007100.1:g.8907T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.234T>C MANE Select ENSP00000274813.3:p.Thr78=
ENST00000274813.3:c.234T>C ENSP00000274813.3:p.Thr78=
NM_000255.3:c.234T>C NP_000246.2:p.Thr78=
XM_005249143.2:c.234T>C XP_005249200.1:p.Thr78=
XM_005249143.3:c.234T>C XP_005249200.1:p.Thr78=
NM_000255.4:c.234T>C MANE Select NP_000246.2:p.Thr78=
Search 100 bp 5'
Search 100 bp 3'