Canonical Allele Identifier: CA13492251
Gene:

Linked Data

dbSNP Id: rs1946518

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112164735T>G , CM000673.2:g.112164735T>G GRCh38
NC_000011.9:g.112035458T>G , CM000673.1:g.112035458T>G GRCh37
NC_000011.8:g.111540668T>G NCBI36
NG_028143.1:g.4383A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000525987.5:n.320-5684T>G
ENST00000531744.5:c.315-5684T>G ENSP00000456957.1:n.315-5684T>G
ENST00000532699.1:c.315-5684T>G ENSP00000456434.1:n.315-5684T>G