Canonical Allele Identifier: CA128008817
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs968678623
gnomAD v3: 5-135028380-G-T
gnomAD v4: 5-135028380-G-T
MyVariant Identifiers: chr5:g.134364070G>T (hg19) chr5:g.135028380G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028380G>T , CM000667.2:g.135028380G>T GRCh38
NC_000005.9:g.134364070G>T , CM000667.1:g.134364070G>T GRCh37
NC_000005.8:g.134391969G>T NCBI36
NG_012114.1:g.10895C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*399C>A MANE Select ENSP00000265340.6:n.*399C>A
ENST00000265340.11:c.*399C>A ENSP00000265340.6:n.*399C>A
NM_002653.4:c.*399C>A NP_002644.4:n.*399C>A
NM_002653.5:c.*399C>A MANE Select NP_002644.4:n.*399C>A
Search 100 bp 5'
Search 100 bp 3'