Canonical Allele Identifier: CA279238665

Gene: TUFM

Linked Data

• dbSNP Id: rs866472038
• gnomAD v4: 16-28845336-G-A
• MyVariant Identifiers: chr16:g.28856657G>A (hg19) ; chr16:g.28845336G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845336G>A , CM000678.2:g.28845336G>A	GRCh38
NC_000016.9:g.28856657G>A , CM000678.1:g.28856657G>A	GRCh37
NC_000016.8:g.28764158G>A	NCBI36
NG_008964.1:g.6073C>T
NG_029706.2:g.3737G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.392C>T MANE Select	ENSP00000322439.3:p.Pro131Leu
ENST00000313511.7:c.392C>T	ENSP00000322439.3:p.Pro131Leu
ENST00000565012.1:c.248-281C>T	ENSP00000455007.1:n.248-281C>T
NM_003321.4:c.392C>T	NP_003312.3:p.Pro131Leu
XM_011545928.1:c.392C>T	XP_011544230.1:p.Pro131Leu
NM_001365360.1:c.392C>T	NP_001352289.1:p.Pro131Leu
NM_003321.5:c.392C>T MANE Select	NP_003312.3:p.Pro131Leu
NM_001365360.2:c.392C>T	NP_001352289.1:p.Pro131Leu