Canonical Allele Identifier: CA737156483
Gene:

Linked Data

dbSNP Id: rs1364684536
gnomAD v3: 1-56385026-A-T
gnomAD v4: 1-56385026-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56385026A>T , CM000663.2:g.56385026A>T GRCh38
NC_000001.10:g.56850698A>T , CM000663.1:g.56850698A>T GRCh37
NC_000001.9:g.56623286A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000641109.1:c.759+93860T>A ENSP00000493138.1:n.759+93860T>A
ENST00000641346.1:c.366+15068T>A
ENST00000641415.1:c.192+98237T>A
ENST00000641494.1:c.378+98237T>A
ENST00000642129.1:c.768+98237T>A