Canonical Allele Identifier: CA571557023

Gene:

Linked Data

• gnomAD v2: 6-161089544-G-A
• MyVariant Identifiers: chr6:g.161089544G>A (hg19) ; chr6:g.160668512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160668512G>A , CM000668.2:g.160668512G>A	GRCh38
NC_000006.11:g.161089544G>A , CM000668.1:g.161089544G>A	GRCh37
NC_000006.10:g.161009534G>A	NCBI36
NG_016147.1:g.2864C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452651.1:n.115-2139C>T