Canonical Allele Identifier: CA361028563
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1353831820
gnomAD v2: 5-134367052-C-T
gnomAD v3: 5-135031362-C-T
gnomAD v4: 5-135031362-C-T
MyVariant Identifiers: chr5:g.134367052C>T (hg19) chr5:g.135031362C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031362C>T , CM000667.2:g.135031362C>T GRCh38
NC_000005.9:g.134367052C>T , CM000667.1:g.134367052C>T GRCh37
NC_000005.8:g.134394951C>T NCBI36
NG_012114.1:g.7913G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.316G>A MANE Select ENSP00000265340.6:p.Ala106Thr
ENST00000265340.11:c.316G>A ENSP00000265340.6:p.Ala106Thr
ENST00000502676.1:c.316G>A ENSP00000423624.1:p.Ala106Thr
ENST00000503586.1:c.438G>A
ENST00000504936.1:n.649G>A
ENST00000506438.5:c.316G>A ENSP00000427542.1:p.Ala106Thr
ENST00000507253.5:c.316G>A ENSP00000422908.1:p.Ala106Thr
NM_002653.4:c.316G>A NP_002644.4:p.Ala106Thr
NM_002653.5:c.316G>A MANE Select NP_002644.4:p.Ala106Thr
Search 100 bp 5'
Search 100 bp 3'