Canonical Allele Identifier: CA1138937577

Gene:

Linked Data

• gnomAD v3: Y-8707780-G-A
• gnomAD v4: Y-8707780-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.8707780G>A , CM000686.2:g.8707780G>A	GRCh38
NC_000024.9:g.8575821G>A , CM000686.1:g.8575821G>A	GRCh37
NC_000024.8:g.8635821G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623558.1:c.139+8748G>A	ENSP00000485446.1:n.139+8748G>A
ENST00000624593.1:c.-57+40936C>T	ENSP00000485106.1:n.-57+40936C>T