Canonical Allele Identifier: CA291540

Gene: TUFM

Linked Data

• ClinVar Variation Id: 137860
• ClinVar RCV Id: RCV000126186 ; RCV000894222 ; RCV001117670
• dbSNP Id: rs188421321
• ExAC: 16:28856013 G / A
• gnomAD v2: 16-28856013-G-A
• gnomAD v3: 16-28844692-G-A
• gnomAD v4: 16-28844692-G-A
• MyVariant Identifiers: chr16:g.28856013G>A (hg19) ; chr16:g.28844692G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28844692G>A , CM000678.2:g.28844692G>A	GRCh38
NC_000016.9:g.28856013G>A , CM000678.1:g.28856013G>A	GRCh37
NC_000016.8:g.28763514G>A	NCBI36
NG_008964.1:g.6717C>T
NG_029706.2:g.3093G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.684+6C>T MANE Select	ENSP00000322439.3:n.684+6C>T
ENST00000313511.7:c.684+6C>T	ENSP00000322439.3:n.684+6C>T
ENST00000561644.1:n.228C>T
ENST00000565012.1:c.*211+6C>T	ENSP00000455007.1:n.*211+6C>T
NM_003321.4:c.684+6C>T	NP_003312.3:n.684+6C>T
XM_011545928.1:c.684+6C>T	XP_011544230.1:n.684+6C>T
NM_001365360.1:c.684+6C>T	NP_001352289.1:n.684+6C>T
NM_003321.5:c.684+6C>T MANE Select	NP_003312.3:n.684+6C>T
NM_001365360.2:c.684+6C>T	NP_001352289.1:n.684+6C>T