Canonical Allele Identifier: CA2508329950
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028541-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028541T>G , CM000667.2:g.135028541T>G GRCh38
NC_000005.9:g.134364231T>G , CM000667.1:g.134364231T>G GRCh37
NC_000005.8:g.134392130T>G NCBI36
NG_012114.1:g.10734A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*238A>C MANE Select ENSP00000265340.6:n.*238A>C
ENST00000265340.11:c.*238A>C ENSP00000265340.6:n.*238A>C
NM_002653.4:c.*238A>C NP_002644.4:n.*238A>C
NM_002653.5:c.*238A>C MANE Select NP_002644.4:n.*238A>C
Search 100 bp 5'
Search 100 bp 3'