Canonical Allele Identifier: CA425468437
Gene: TTC27 HGNC NCBI

Linked Data

dbSNP Id: rs758250889
gnomAD v4: 2-32640365-A-T
MyVariant Identifiers: chr2:g.32865432A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32640365A>T , CM000664.2:g.32640365A>T GRCh38
NC_000002.11:g.32865432A>T , CM000664.1:g.32865432A>T GRCh37
NC_000002.10:g.32718936A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000317907.9:c.492A>T MANE Select ENSP00000313953.4:p.Ala164=
ENST00000647819.1:c.492A>T ENSP00000497009.1:p.Ala164=
ENST00000317907.8:c.492A>T ENSP00000313953.4:p.Ala164=
ENST00000448773.5:c.342A>T ENSP00000393327.1:p.Ala114=
ENST00000454690.1:c.88+11985A>T ENSP00000392883.1:n.88+11985A>T
NM_001193509.1:c.342A>T NP_001180438.1:p.Ala114=
NM_017735.4:c.492A>T NP_060205.3:p.Ala164=
XM_005264416.1:c.492A>T XP_005264473.1:p.Ala164=
XM_011532958.1:c.492A>T XP_011531260.1:p.Ala164=
XM_005264416.2:c.492A>T XP_005264473.1:p.Ala164=
XM_011532958.2:c.492A>T XP_011531260.1:p.Ala164=
XR_002959314.1:n.750A>T
NM_017735.5:c.492A>T MANE Select NP_060205.3:p.Ala164=
NM_001193509.2:c.342A>T NP_001180438.1:p.Ala114=