Canonical Allele Identifier: CA2675353322
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028444-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028444A>G , CM000667.2:g.135028444A>G GRCh38
NC_000005.9:g.134364134A>G , CM000667.1:g.134364134A>G GRCh37
NC_000005.8:g.134392033A>G NCBI36
NG_012114.1:g.10831T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*335T>C MANE Select ENSP00000265340.6:n.*335T>C
ENST00000265340.11:c.*335T>C ENSP00000265340.6:n.*335T>C
NM_002653.4:c.*335T>C NP_002644.4:n.*335T>C
NM_002653.5:c.*335T>C MANE Select NP_002644.4:n.*335T>C
Search 100 bp 5'
Search 100 bp 3'