Canonical Allele Identifier: CA7985633
Gene: TUFM HGNC NCBI

Linked Data

dbSNP Id: rs371784168
ExAC: 16:28856347 G / A
gnomAD v2: 16-28856347-G-A
gnomAD v3: 16-28845026-G-A
gnomAD v4: 16-28845026-G-A
MyVariant Identifiers: chr16:g.28856347G>A (hg19) chr16:g.28845026G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845026G>A , CM000678.2:g.28845026G>A GRCh38
NC_000016.9:g.28856347G>A , CM000678.1:g.28856347G>A GRCh37
NC_000016.8:g.28763848G>A NCBI36
NG_008964.1:g.6383C>T
NG_029706.2:g.3427G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.444C>T MANE Select ENSP00000322439.3:p.Asp148=
ENST00000313511.7:c.444C>T ENSP00000322439.3:p.Asp148=
ENST00000565012.1:c.277C>T ENSP00000455007.1:p.Arg93Trp
NM_003321.4:c.444C>T NP_003312.3:p.Asp148=
XM_011545928.1:c.444C>T XP_011544230.1:p.Asp148=
NM_001365360.1:c.444C>T NP_001352289.1:p.Asp148=
NM_003321.5:c.444C>T MANE Select NP_003312.3:p.Asp148=
NM_001365360.2:c.444C>T NP_001352289.1:p.Asp148=
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