Canonical Allele Identifier: CA395417817

Gene: TUFM

Linked Data

• gnomAD v4: 16-28845051-A-G
• MyVariant Identifiers: chr16:g.28856372A>G (hg19) ; chr16:g.28845051A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845051A>G , CM000678.2:g.28845051A>G	GRCh38
NC_000016.9:g.28856372A>G , CM000678.1:g.28856372A>G	GRCh37
NC_000016.8:g.28763873A>G	NCBI36
NG_008964.1:g.6358T>C
NG_029706.2:g.3452A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.419T>C MANE Select	ENSP00000322439.3:p.Met140Thr
ENST00000313511.7:c.419T>C	ENSP00000322439.3:p.Met140Thr
ENST00000565012.1:c.252T>C	ENSP00000455007.1:p.Tyr84=
NM_003321.4:c.419T>C	NP_003312.3:p.Met140Thr
XM_011545928.1:c.419T>C	XP_011544230.1:p.Met140Thr
NM_001365360.1:c.419T>C	NP_001352289.1:p.Met140Thr
NM_003321.5:c.419T>C MANE Select	NP_003312.3:p.Met140Thr
NM_001365360.2:c.419T>C	NP_001352289.1:p.Met140Thr