Canonical Allele Identifier: CA361027191

Gene: PITX1

Linked Data

• MyVariant Identifiers: chr5:g.134364474T>G (hg19) ; chr5:g.135028784T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028784T>G , CM000667.2:g.135028784T>G	GRCh38
NC_000005.9:g.134364474T>G , CM000667.1:g.134364474T>G	GRCh37
NC_000005.8:g.134392373T>G	NCBI36
NG_012114.1:g.10491A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.940A>C MANE Select	ENSP00000265340.6:p.Ser314Arg
ENST00000265340.11:c.940A>C	ENSP00000265340.6:p.Ser314Arg
ENST00000506438.5:c.940A>C	ENSP00000427542.1:p.Ser314Arg
NM_002653.4:c.940A>C	NP_002644.4:p.Ser314Arg
NM_002653.5:c.940A>C MANE Select	NP_002644.4:p.Ser314Arg