Canonical Allele Identifier: CA422484306

Gene:

Linked Data

• dbSNP Id: rs2102100128
• gnomAD v4: 1-192800583-A-T
• MyVariant Identifiers: chr1:g.192769713A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.192800583A>T , CM000663.2:g.192800583A>T	GRCh38
NC_000001.10:g.192769713A>T , CM000663.1:g.192769713A>T	GRCh37
NC_000001.9:g.191036336A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429211.2:n.13A>T