Canonical Allele Identifier: CA551379810

Gene: TMEM165

Linked Data

• dbSNP Id: rs1278302813
• gnomAD v2: 4-56290152-C-T
• gnomAD v3: 4-55423985-C-T
• gnomAD v4: 4-55423985-C-T
• MyVariant Identifiers: chr4:g.56290152C>T (hg19) ; chr4:g.55423985C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55423985C>T , CM000666.2:g.55423985C>T	GRCh38
NC_000004.11:g.56290152C>T , CM000666.1:g.56290152C>T	GRCh37
NC_000004.10:g.55984909C>T	NCBI36
NG_032881.1:g.33073C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381334.10:c.793-553C>T MANE Select	ENSP00000370736.5:n.793-553C>T
ENST00000381334.9:c.793-553C>T	ENSP00000370736.5:n.793-553C>T
ENST00000506103.2:c.247-553C>T
ENST00000506198.5:c.208-553C>T	ENSP00000425449.1:n.208-553C>T
ENST00000508404.5:c.*665-553C>T	ENSP00000422639.1:n.*665-553C>T
ENST00000508561.5:n.489-553C>T
ENST00000509575.1:n.296-553C>T
ENST00000514904.5:n.1247-553C>T
ENST00000515591.1:n.872C>T
ENST00000608091.1:c.303-553C>T
NM_018475.4:c.793-553C>T	NP_060945.2:n.793-553C>T
NR_073070.1:n.1173-553C>T
XM_011534394.1:c.793-553C>T	XP_011532696.1:n.793-553C>T
XM_011534394.3:c.793-553C>T	XP_011532696.1:n.793-553C>T
XM_017008412.1:c.604-553C>T	XP_016863901.1:n.604-553C>T
XR_001741287.2:n.1509-553C>T
NM_018475.5:c.793-553C>T MANE Select	NP_060945.2:n.793-553C>T
NR_073070.2:n.1129-553C>T