Canonical Allele Identifier: CA21327506

Gene:

Linked Data

• dbSNP Id: rs934521626
• gnomAD v2: 1-38633731-G-A
• gnomAD v3: 1-38168059-G-A
• gnomAD v4: 1-38168059-G-A
• MyVariant Identifiers: chr1:g.38633731G>A (hg19) ; chr1:g.38168059G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.38168059G>A , CM000663.2:g.38168059G>A	GRCh38
NC_000001.10:g.38633731G>A , CM000663.1:g.38633731G>A	GRCh37
NC_000001.9:g.38406318G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_947202.1:n.175+6236G>A
XR_947203.1:n.62-24946G>A
XR_947204.1:n.175+6236G>A
XR_947205.1:n.175+6236G>A
XR_001737984.1:n.175+6236G>A
XR_001737985.1:n.62-24946G>A
XR_001737986.1:n.175+6236G>A
XR_001737987.1:n.175+6236G>A
XR_002958294.1:n.175+6236G>A
XR_947205.2:n.175+6236G>A