Canonical Allele Identifier: CA395417543

Gene: TUFM

Linked Data

• dbSNP Id: rs1596603212
• MyVariant Identifiers: chr16:g.28856303T>G (hg19) ; chr16:g.28844982T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28844982T>G , CM000678.2:g.28844982T>G	GRCh38
NC_000016.9:g.28856303T>G , CM000678.1:g.28856303T>G	GRCh37
NC_000016.8:g.28763804T>G	NCBI36
NG_008964.1:g.6427A>C
NG_029706.2:g.3383T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.488A>C MANE Select	ENSP00000322439.3:p.Gln163Pro
ENST00000313511.7:c.488A>C	ENSP00000322439.3:p.Gln163Pro
ENST00000561644.1:n.26A>C
ENST00000565012.1:c.*15A>C	ENSP00000455007.1:n.*15A>C
NM_003321.4:c.488A>C	NP_003312.3:p.Gln163Pro
XM_011545928.1:c.488A>C	XP_011544230.1:p.Gln163Pro
NM_001365360.1:c.488A>C	NP_001352289.1:p.Gln163Pro
NM_003321.5:c.488A>C MANE Select	NP_003312.3:p.Gln163Pro
NM_001365360.2:c.488A>C	NP_001352289.1:p.Gln163Pro