Canonical Allele Identifier: CA356958746

Gene: TMEM165

Linked Data

• ClinVar Variation Id: 1720665
• ClinVar RCV Id: RCV002298379
• MyVariant Identifiers: chr4:g.56262438C>G (hg19) ; chr4:g.55396271C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55396271C>G , CM000666.2:g.55396271C>G	GRCh38
NC_000004.11:g.56262438C>G , CM000666.1:g.56262438C>G	GRCh37
NC_000004.10:g.55957195C>G	NCBI36
NG_032881.1:g.5359C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381334.10:c.82C>G MANE Select	ENSP00000370736.5:p.Pro28Ala
ENST00000381334.9:c.82C>G	ENSP00000370736.5:p.Pro28Ala
ENST00000506198.5:c.82C>G	ENSP00000425449.1:p.Pro28Ala
ENST00000508404.5:c.82C>G	ENSP00000422639.1:p.Pro28Ala
ENST00000514070.1:n.21C>G
NM_018475.4:c.82C>G	NP_060945.2:p.Pro28Ala
NR_073070.1:n.359C>G
XM_011534394.1:c.82C>G	XP_011532696.1:p.Pro28Ala
XM_011534394.3:c.82C>G	XP_011532696.1:p.Pro28Ala
XM_017008412.1:c.-364C>G	XP_016863901.1:n.-364C>G
XR_001741287.2:n.619C>G
NM_018475.5:c.82C>G MANE Select	NP_060945.2:p.Pro28Ala
NR_073070.2:n.315C>G