Canonical Allele Identifier: CA1605983

Gene: TTC27

Linked Data

• dbSNP Id: rs765461851
• ExAC: 2:32865524 C / T
• gnomAD v2: 2-32865524-C-T
• gnomAD v3: 2-32640457-C-T
• gnomAD v4: 2-32640457-C-T
• MyVariant Identifiers: chr2:g.32865524C>T (hg19) ; chr2:g.32640457C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32640457C>T , CM000664.2:g.32640457C>T	GRCh38
NC_000002.11:g.32865524C>T , CM000664.1:g.32865524C>T	GRCh37
NC_000002.10:g.32719028C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000317907.9:c.537+47C>T MANE Select	ENSP00000313953.4:n.537+47C>T
ENST00000647819.1:c.537+47C>T	ENSP00000497009.1:n.537+47C>T
ENST00000317907.8:c.537+47C>T	ENSP00000313953.4:n.537+47C>T
ENST00000454690.1:c.88+12077C>T	ENSP00000392883.1:n.88+12077C>T
NM_001193509.1:c.387+47C>T	NP_001180438.1:n.387+47C>T
NM_017735.4:c.537+47C>T	NP_060205.3:n.537+47C>T
XM_005264416.1:c.537+47C>T	XP_005264473.1:n.537+47C>T
XM_011532958.1:c.537+47C>T	XP_011531260.1:n.537+47C>T
XM_005264416.2:c.537+47C>T	XP_005264473.1:n.537+47C>T
XM_011532958.2:c.537+47C>T	XP_011531260.1:n.537+47C>T
XR_002959314.1:n.795+47C>T
NM_017735.5:c.537+47C>T MANE Select	NP_060205.3:n.537+47C>T
NM_001193509.2:c.387+47C>T	NP_001180438.1:n.387+47C>T