Canonical Allele Identifier: CA622292849

Gene:

Linked Data

• dbSNP Id: rs1394968912
• gnomAD v2: 16-55689402-T-C
• gnomAD v3: 16-55655490-T-C
• gnomAD v4: 16-55655490-T-C
• MyVariant Identifiers: chr16:g.55689402T>C (hg19) ; chr16:g.55655490T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55655490T>C , CM000678.2:g.55655490T>C	GRCh38
NC_000016.9:g.55689402T>C , CM000678.1:g.55689402T>C	GRCh37
NC_000016.8:g.54246903T>C	NCBI36
NG_016969.1:g.4861T>C

Transcript Alleles

HGVS	Amino-acid change
XR_933603.1:n.54+109A>G