Canonical Allele Identifier: CA395418114

Gene: TUFM

Linked Data

• dbSNP Id: rs1285385639
• gnomAD v2: 16-28856664-C-T
• gnomAD v4: 16-28845343-C-T
• MyVariant Identifiers: chr16:g.28856664C>T (hg19) ; chr16:g.28845343C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845343C>T , CM000678.2:g.28845343C>T	GRCh38
NC_000016.9:g.28856664C>T , CM000678.1:g.28856664C>T	GRCh37
NC_000016.8:g.28764165C>T	NCBI36
NG_008964.1:g.6066G>A
NG_029706.2:g.3744C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.385G>A MANE Select	ENSP00000322439.3:p.Asp129Asn
ENST00000313511.7:c.385G>A	ENSP00000322439.3:p.Asp129Asn
ENST00000565012.1:c.248-288G>A	ENSP00000455007.1:n.248-288G>A
NM_003321.4:c.385G>A	NP_003312.3:p.Asp129Asn
XM_011545928.1:c.385G>A	XP_011544230.1:p.Asp129Asn
NM_001365360.1:c.385G>A	NP_001352289.1:p.Asp129Asn
NM_003321.5:c.385G>A MANE Select	NP_003312.3:p.Asp129Asn
NM_001365360.2:c.385G>A	NP_001352289.1:p.Asp129Asn