Canonical Allele Identifier: CA134548251

Gene:

Linked Data

• dbSNP Id: rs553018960
• gnomAD v2: 6-8169710-G-A
• gnomAD v3: 6-8169477-G-A
• gnomAD v4: 6-8169477-G-A
• MyVariant Identifiers: chr6:g.8169710G>A (hg19) ; chr6:g.8169477G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.8169477G>A , CM000668.2:g.8169477G>A	GRCh38
NC_000006.11:g.8169710G>A , CM000668.1:g.8169710G>A	GRCh37
NC_000006.10:g.8114709G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_926440.1:n.82+11217G>A
XR_926441.1:n.189+1557G>A
XR_926442.1:n.82+11217G>A
XR_926443.1:n.82+11217G>A
XR_001743950.1:n.179+1557G>A
XR_926440.2:n.74+11217G>A
XR_926441.2:n.179+1557G>A
XR_926443.2:n.83+11217G>A