Canonical Allele Identifier: CA1081831127
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1752386284
gnomAD v3: 5-135028442-G-A
gnomAD v4: 5-135028442-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028442G>A , CM000667.2:g.135028442G>A GRCh38
NC_000005.9:g.134364132G>A , CM000667.1:g.134364132G>A GRCh37
NC_000005.8:g.134392031G>A NCBI36
NG_012114.1:g.10833C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*337C>T MANE Select ENSP00000265340.6:n.*337C>T
ENST00000265340.11:c.*337C>T ENSP00000265340.6:n.*337C>T
NM_002653.4:c.*337C>T NP_002644.4:n.*337C>T
NM_002653.5:c.*337C>T MANE Select NP_002644.4:n.*337C>T
Search 100 bp 5'
Search 100 bp 3'