Canonical Allele Identifier: CA280619525

Gene:

Linked Data

• dbSNP Id: rs148055468
• gnomAD v2: 16-31102136-G-T
• gnomAD v3: 16-31090815-G-T
• gnomAD v4: 16-31090815-G-T
• MyVariant Identifiers: chr16:g.31102136G>T (hg19) ; chr16:g.31090815G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31090815G>T , CM000678.2:g.31090815G>T	GRCh38
NC_000016.9:g.31102136G>T , CM000678.1:g.31102136G>T	GRCh37
NC_000016.8:g.31009637G>T	NCBI36
NG_011564.1:g.9141C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529564.1:c.283+2497C>A	ENSP00000431371.1:n.283+2497C>A
ENST00000532364.1:c.173+3742C>A	ENSP00000460316.1:n.173+3742C>A
ENST00000533518.5:c.407+277C>A