Canonical Allele Identifier: CA3847078
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs762193396
ExAC: 6:49425513 C / T
gnomAD v2: 6-49425513-C-T
gnomAD v4: 6-49457800-C-T
MyVariant Identifiers: chr6:g.49425513C>T (hg19) chr6:g.49457800C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457800C>T , CM000668.2:g.49457800C>T GRCh38
NC_000006.11:g.49425513C>T , CM000668.1:g.49425513C>T GRCh37
NC_000006.10:g.49533472C>T NCBI36
NG_007100.1:g.10340G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.644G>A MANE Select ENSP00000274813.3:p.Gly215Asp
ENST00000274813.3:c.644G>A ENSP00000274813.3:p.Gly215Asp
NM_000255.3:c.644G>A NP_000246.2:p.Gly215Asp
XM_005249143.2:c.644G>A XP_005249200.1:p.Gly215Asp
XM_005249143.3:c.644G>A XP_005249200.1:p.Gly215Asp
NM_000255.4:c.644G>A MANE Select NP_000246.2:p.Gly215Asp
Search 100 bp 5'
Search 100 bp 3'