Canonical Allele Identifier: CA562836038
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs558050532
gnomAD v2: 5-134364124-C-A
gnomAD v3: 5-135028434-C-A
gnomAD v4: 5-135028434-C-A
MyVariant Identifiers: chr5:g.134364124C>A (hg19) chr5:g.135028434C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028434C>A , CM000667.2:g.135028434C>A GRCh38
NC_000005.9:g.134364124C>A , CM000667.1:g.134364124C>A GRCh37
NC_000005.8:g.134392023C>A NCBI36
NG_012114.1:g.10841G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*345G>T MANE Select ENSP00000265340.6:n.*345G>T
ENST00000265340.11:c.*345G>T ENSP00000265340.6:n.*345G>T
NM_002653.4:c.*345G>T NP_002644.4:n.*345G>T
NM_002653.5:c.*345G>T MANE Select NP_002644.4:n.*345G>T
Search 100 bp 5'
Search 100 bp 3'