Canonical Allele Identifier: CA361028673
Gene: PITX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.134367100G>C (hg19) chr5:g.135031410G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031410G>C , CM000667.2:g.135031410G>C GRCh38
NC_000005.9:g.134367100G>C , CM000667.1:g.134367100G>C GRCh37
NC_000005.8:g.134394999G>C NCBI36
NG_012114.1:g.7865C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265340.12:c.268C>G MANE Select ENSP00000265340.6:p.Arg90Gly
ENST00000265340.11:c.268C>G ENSP00000265340.6:p.Arg90Gly
ENST00000502676.1:c.268C>G ENSP00000423624.1:p.Arg90Gly
ENST00000503586.1:c.390C>G
ENST00000504936.1:n.601C>G
ENST00000506438.5:c.268C>G ENSP00000427542.1:p.Arg90Gly
ENST00000507253.5:c.268C>G ENSP00000422908.1:p.Arg90Gly
NM_002653.4:c.268C>G NP_002644.4:p.Arg90Gly
NM_002653.5:c.268C>G MANE Select NP_002644.4:p.Arg90Gly
Search 100 bp 5'
Search 100 bp 3'