Canonical Allele Identifier: CA721927968

Gene:

Linked Data

• dbSNP Id: rs1397292783
• gnomAD v3: 16-55655477-G-C
• gnomAD v4: 16-55655477-G-C
• MyVariant Identifiers: chr16:g.55689389G>C (hg19) ; chr16:g.55655477G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55655477G>C , CM000678.2:g.55655477G>C	GRCh38
NC_000016.9:g.55689389G>C , CM000678.1:g.55689389G>C	GRCh37
NC_000016.8:g.54246890G>C	NCBI36
NG_016969.1:g.4848G>C

Transcript Alleles

HGVS	Amino-acid change
XR_933603.1:n.54+122C>G