Canonical Allele Identifier: CA128008826
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs766100244
gnomAD v3: 5-135028385-C-T
gnomAD v4: 5-135028385-C-T
MyVariant Identifiers: chr5:g.134364075C>T (hg19) chr5:g.135028385C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028385C>T , CM000667.2:g.135028385C>T GRCh38
NC_000005.9:g.134364075C>T , CM000667.1:g.134364075C>T GRCh37
NC_000005.8:g.134391974C>T NCBI36
NG_012114.1:g.10890G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*394G>A MANE Select ENSP00000265340.6:n.*394G>A
ENST00000265340.11:c.*394G>A ENSP00000265340.6:n.*394G>A
NM_002653.4:c.*394G>A NP_002644.4:n.*394G>A
NM_002653.5:c.*394G>A MANE Select NP_002644.4:n.*394G>A
Search 100 bp 5'
Search 100 bp 3'