Canonical Allele Identifier: CA2597569098

Gene:

Linked Data

• gnomAD v3: 3-53057206-G-C
• gnomAD v4: 3-53057206-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53057206G>C , CM000665.2:g.53057206G>C	GRCh38
NC_000003.11:g.53091222G>C , CM000665.1:g.53091222G>C	GRCh37
NC_000003.10:g.53066262G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607203.1:c.318-9967C>G
ENST00000607283.5:c.465-13952C>G
ENST00000607495.5:c.447+20482C>G