Canonical Allele Identifier: CA2675353336
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028457-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028457G>T , CM000667.2:g.135028457G>T GRCh38
NC_000005.9:g.134364147G>T , CM000667.1:g.134364147G>T GRCh37
NC_000005.8:g.134392046G>T NCBI36
NG_012114.1:g.10818C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*322C>A MANE Select ENSP00000265340.6:n.*322C>A
ENST00000265340.11:c.*322C>A ENSP00000265340.6:n.*322C>A
NM_002653.4:c.*322C>A NP_002644.4:n.*322C>A
NM_002653.5:c.*322C>A MANE Select NP_002644.4:n.*322C>A
Search 100 bp 5'
Search 100 bp 3'