Canonical Allele Identifier: CA719892305

Gene:

Linked Data

• dbSNP Id: rs1189463952
• gnomAD v4: 16-31090838-A-G
• MyVariant Identifiers: chr16:g.31102159A>G (hg19) ; chr16:g.31090838A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31090838A>G , CM000678.2:g.31090838A>G	GRCh38
NC_000016.9:g.31102159A>G , CM000678.1:g.31102159A>G	GRCh37
NC_000016.8:g.31009660A>G	NCBI36
NG_011564.1:g.9118T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529564.1:c.283+2474T>C	ENSP00000431371.1:n.283+2474T>C
ENST00000532364.1:c.173+3719T>C	ENSP00000460316.1:n.173+3719T>C
ENST00000533518.5:c.407+254T>C