Canonical Allele Identifier: CA11944383

Gene: PITX1-AS1

Linked Data

• dbSNP Id: rs254560
• gnomAD v2: 5-134443606-G-A
• gnomAD v3: 5-135107916-G-A
• gnomAD v4: 5-135107916-G-A
• MyVariant Identifiers: chr5:g.134443606G>A (hg19) ; chr5:g.135107916G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135107916G>A , CM000667.2:g.135107916G>A	GRCh38
NC_000005.9:g.134443606G>A , CM000667.1:g.134443606G>A	GRCh37
NC_000005.8:g.134471505G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NM_001277348.1:c.-493+55394G>A	NP_001264277.1:n.-493+55394G>A
NR_161235.1:n.336+55394G>A