Canonical Allele Identifier: CA323577612

Gene:

Linked Data

• dbSNP Id: rs564515201
• gnomAD v3: 22-36129953-G-A
• gnomAD v4: 22-36129953-G-A
• MyVariant Identifiers: chr22:g.36526001G>A (hg19) ; chr22:g.36129953G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36129953G>A , CM000684.2:g.36129953G>A	GRCh38
NC_000022.10:g.36526001G>A , CM000684.1:g.36526001G>A	GRCh37
NC_000022.9:g.34855947G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_430441.2:n.1547+3209C>T
XR_938219.1:n.2983C>T
XR_938220.1:n.2983C>T
XR_938221.1:n.1471+3909C>T
XR_001755516.2:n.4845C>T
XR_001755517.2:n.3072C>T
XR_001755518.2:n.4845C>T
XR_001755519.2:n.4845C>T
XR_001755520.2:n.4845C>T
XR_001755521.2:n.4845C>T
XR_001755522.2:n.1637-2180C>T
XR_001755525.2:n.1637-599C>T
XR_001755526.2:n.1637-2180C>T
XR_430441.4:n.1636+3209C>T