Canonical Allele Identifier: CA7985640

Gene: TUFM

Linked Data

• dbSNP Id: rs761640184
• ExAC: 16:28856368 G / T
• gnomAD v4: 16-28845047-G-T
• MyVariant Identifiers: chr16:g.28856368G>T (hg19) ; chr16:g.28845047G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845047G>T , CM000678.2:g.28845047G>T	GRCh38
NC_000016.9:g.28856368G>T , CM000678.1:g.28856368G>T	GRCh37
NC_000016.8:g.28763869G>T	NCBI36
NG_008964.1:g.6362C>A
NG_029706.2:g.3448G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.423C>A MANE Select	ENSP00000322439.3:p.Ile141=
ENST00000313511.7:c.423C>A	ENSP00000322439.3:p.Ile141=
ENST00000565012.1:c.256C>A	ENSP00000455007.1:p.His86Asn
NM_003321.4:c.423C>A	NP_003312.3:p.Ile141=
XM_011545928.1:c.423C>A	XP_011544230.1:p.Ile141=
NM_001365360.1:c.423C>A	NP_001352289.1:p.Ile141=
NM_003321.5:c.423C>A MANE Select	NP_003312.3:p.Ile141=
NM_001365360.2:c.423C>A	NP_001352289.1:p.Ile141=