Canonical Allele Identifier: CA15439450

Gene:

Linked Data

• dbSNP Id: rs56253438
• gnomAD v2: 6-1535857-T-C
• gnomAD v3: 6-1535622-T-C
• gnomAD v4: 6-1535622-T-C
• MyVariant Identifiers: chr6:g.1535857T>C (hg19) ; chr6:g.1535622T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1535622T>C , CM000668.2:g.1535622T>C	GRCh38
NC_000006.11:g.1535857T>C , CM000668.1:g.1535857T>C	GRCh37
NC_000006.10:g.1480856T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_427861.2:n.234+16724A>G
XR_926380.1:n.218-2834T>C
XR_926381.1:n.1108-2834T>C
XR_926382.1:n.235-6443A>G
XR_926384.1:n.200-6443A>G
XR_001743921.1:n.235-6467A>G
XR_427861.3:n.234+16724A>G
XR_926381.2:n.1123-2834T>C