Canonical Allele Identifier: CA395417530

Gene: TUFM

Linked Data

• MyVariant Identifiers: chr16:g.28856300G>C (hg19) ; chr16:g.28844979G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28844979G>C , CM000678.2:g.28844979G>C	GRCh38
NC_000016.9:g.28856300G>C , CM000678.1:g.28856300G>C	GRCh37
NC_000016.8:g.28763801G>C	NCBI36
NG_008964.1:g.6430C>G
NG_029706.2:g.3380G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.491C>G MANE Select	ENSP00000322439.3:p.Thr164Ser
ENST00000313511.7:c.491C>G	ENSP00000322439.3:p.Thr164Ser
ENST00000561644.1:n.29C>G
ENST00000565012.1:c.*18C>G	ENSP00000455007.1:n.*18C>G
NM_003321.4:c.491C>G	NP_003312.3:p.Thr164Ser
XM_011545928.1:c.491C>G	XP_011544230.1:p.Thr164Ser
NM_001365360.1:c.491C>G	NP_001352289.1:p.Thr164Ser
NM_003321.5:c.491C>G MANE Select	NP_003312.3:p.Thr164Ser
NM_001365360.2:c.491C>G	NP_001352289.1:p.Thr164Ser