Canonical Allele Identifier: CA395418203
Gene: TUFM HGNC NCBI

Linked Data

COSMIC: COSM4738390
MyVariant Identifiers: chr16:g.28856676A>G (hg19) chr16:g.28845355A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845355A>G , CM000678.2:g.28845355A>G GRCh38
NC_000016.9:g.28856676A>G , CM000678.1:g.28856676A>G GRCh37
NC_000016.8:g.28764177A>G NCBI36
NG_008964.1:g.6054T>C
NG_029706.2:g.3756A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.373T>C MANE Select ENSP00000322439.3:p.Tyr125His
ENST00000313511.7:c.373T>C ENSP00000322439.3:p.Tyr125His
ENST00000565012.1:c.248-300T>C ENSP00000455007.1:n.248-300T>C
NM_003321.4:c.373T>C NP_003312.3:p.Tyr125His
XM_011545928.1:c.373T>C XP_011544230.1:p.Tyr125His
NM_001365360.1:c.373T>C NP_001352289.1:p.Tyr125His
NM_003321.5:c.373T>C MANE Select NP_003312.3:p.Tyr125His
NM_001365360.2:c.373T>C NP_001352289.1:p.Tyr125His
Search 100 bp 5'
Search 100 bp 3'