Canonical Allele Identifier: CA1025451879

Gene:

Linked Data

• dbSNP Id: rs2059868728
• gnomAD v3: 22-36129952-A-T
• gnomAD v4: 22-36129952-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36129952A>T , CM000684.2:g.36129952A>T	GRCh38
NC_000022.10:g.36526000A>T , CM000684.1:g.36526000A>T	GRCh37
NC_000022.9:g.34855946A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_430441.2:n.1547+3210T>A
XR_938219.1:n.2984T>A
XR_938220.1:n.2984T>A
XR_938221.1:n.1471+3910T>A
XR_001755516.2:n.4846T>A
XR_001755517.2:n.3073T>A
XR_001755518.2:n.4846T>A
XR_001755519.2:n.4846T>A
XR_001755520.2:n.4846T>A
XR_001755521.2:n.4846T>A
XR_001755522.2:n.1637-2179T>A
XR_001755525.2:n.1637-598T>A
XR_001755526.2:n.1637-2179T>A
XR_430441.4:n.1636+3210T>A