Canonical Allele Identifier: CA450608774
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1360775261
gnomAD v2: 6-49425476-A-C
gnomAD v4: 6-49457763-A-C
MyVariant Identifiers: chr6:g.49425476A>C (hg19) chr6:g.49457763A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457763A>C , CM000668.2:g.49457763A>C GRCh38
NC_000006.11:g.49425476A>C , CM000668.1:g.49425476A>C GRCh37
NC_000006.10:g.49533435A>C NCBI36
NG_007100.1:g.10377T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.681T>G MANE Select ENSP00000274813.3:p.Val227=
ENST00000274813.3:c.681T>G ENSP00000274813.3:p.Val227=
NM_000255.3:c.681T>G NP_000246.2:p.Val227=
XM_005249143.2:c.681T>G XP_005249200.1:p.Val227=
XM_005249143.3:c.681T>G XP_005249200.1:p.Val227=
NM_000255.4:c.681T>G MANE Select NP_000246.2:p.Val227=
Search 100 bp 5'
Search 100 bp 3'