Canonical Allele Identifier: CA1081831214
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v3: 5-135028549-C-A
gnomAD v4: 5-135028549-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028549C>A , CM000667.2:g.135028549C>A GRCh38
NC_000005.9:g.134364239C>A , CM000667.1:g.134364239C>A GRCh37
NC_000005.8:g.134392138C>A NCBI36
NG_012114.1:g.10726G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*230G>T MANE Select ENSP00000265340.6:n.*230G>T
ENST00000265340.11:c.*230G>T ENSP00000265340.6:n.*230G>T
NM_002653.4:c.*230G>T NP_002644.4:n.*230G>T
NM_002653.5:c.*230G>T MANE Select NP_002644.4:n.*230G>T
Search 100 bp 5'
Search 100 bp 3'