Canonical Allele Identifier: CA2925491

Gene: TMEM165

Linked Data

• ClinVar Variation Id: 380191
• ClinVar RCV Id: RCV000871493 ; RCV001720039
• dbSNP Id: rs11542641
• ExAC: 4:56277867 C / T
• gnomAD v2: 4-56277867-C-T
• gnomAD v3: 4-55411700-C-T
• gnomAD v4: 4-55411700-C-T
• MyVariant Identifiers: chr4:g.56277867C>T (hg19) ; chr4:g.55411700C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55411700C>T , CM000666.2:g.55411700C>T	GRCh38
NC_000004.11:g.56277867C>T , CM000666.1:g.56277867C>T	GRCh37
NC_000004.10:g.55972624C>T	NCBI36
NG_032881.1:g.20788C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381334.10:c.294C>T MANE Select	ENSP00000370736.5:p.Val98=
ENST00000381334.9:c.294C>T	ENSP00000370736.5:p.Val98=
ENST00000502797.1:n.183C>T
ENST00000506198.5:c.208-12838C>T	ENSP00000425449.1:n.208-12838C>T
ENST00000508404.5:c.*166C>T	ENSP00000422639.1:n.*166C>T
ENST00000511710.1:n.418C>T
NM_018475.4:c.294C>T	NP_060945.2:p.Val98=
NR_073070.1:n.674C>T
XM_011534394.1:c.294C>T	XP_011532696.1:p.Val98=
XM_011534394.3:c.294C>T	XP_011532696.1:p.Val98=
XM_017008412.1:c.105C>T	XP_016863901.1:p.Val35=
XR_001741287.2:n.831C>T
NM_018475.5:c.294C>T MANE Select	NP_060945.2:p.Val98=
NR_073070.2:n.630C>T