Canonical Allele Identifier: CA7985674

Gene: TUFM

Linked Data

• dbSNP Id: rs768253816
• ExAC: 16:28856714 T / C
• gnomAD v2: 16-28856714-T-C
• gnomAD v4: 16-28845393-T-C
• MyVariant Identifiers: chr16:g.28856714T>C (hg19) ; chr16:g.28845393T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845393T>C , CM000678.2:g.28845393T>C	GRCh38
NC_000016.9:g.28856714T>C , CM000678.1:g.28856714T>C	GRCh37
NC_000016.8:g.28764215T>C	NCBI36
NG_008964.1:g.6016A>G
NG_029706.2:g.3794T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.335A>G MANE Select	ENSP00000322439.3:p.Asn112Ser
ENST00000313511.7:c.335A>G	ENSP00000322439.3:p.Asn112Ser
ENST00000565012.1:c.248-338A>G	ENSP00000455007.1:n.248-338A>G
NM_003321.4:c.335A>G	NP_003312.3:p.Asn112Ser
XM_011545928.1:c.335A>G	XP_011544230.1:p.Asn112Ser
NM_001365360.1:c.335A>G	NP_001352289.1:p.Asn112Ser
NM_003321.5:c.335A>G MANE Select	NP_003312.3:p.Asn112Ser
NM_001365360.2:c.335A>G	NP_001352289.1:p.Asn112Ser