Canonical Allele Identifier: CA346531570

Gene: TTC27

Linked Data

• gnomAD v4: 2-32640366-C-A
• MyVariant Identifiers: chr2:g.32865433C>A (hg19) ; chr2:g.32640366C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32640366C>A , CM000664.2:g.32640366C>A	GRCh38
NC_000002.11:g.32865433C>A , CM000664.1:g.32865433C>A	GRCh37
NC_000002.10:g.32718937C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000317907.9:c.493C>A MANE Select	ENSP00000313953.4:p.Arg165Ser
ENST00000647819.1:c.493C>A	ENSP00000497009.1:p.Arg165Ser
ENST00000317907.8:c.493C>A	ENSP00000313953.4:p.Arg165Ser
ENST00000448773.5:c.343C>A	ENSP00000393327.1:p.Arg115Ser
ENST00000454690.1:c.88+11986C>A	ENSP00000392883.1:n.88+11986C>A
NM_001193509.1:c.343C>A	NP_001180438.1:p.Arg115Ser
NM_017735.4:c.493C>A	NP_060205.3:p.Arg165Ser
XM_005264416.1:c.493C>A	XP_005264473.1:p.Arg165Ser
XM_011532958.1:c.493C>A	XP_011531260.1:p.Arg165Ser
XM_005264416.2:c.493C>A	XP_005264473.1:p.Arg165Ser
XM_011532958.2:c.493C>A	XP_011531260.1:p.Arg165Ser
XR_002959314.1:n.751C>A
NM_017735.5:c.493C>A MANE Select	NP_060205.3:p.Arg165Ser
NM_001193509.2:c.343C>A	NP_001180438.1:p.Arg115Ser