Canonical Allele Identifier: CA1603620106

Linked Data

dbSNP Id: rs1364520035

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177409580T>C , CM000667.2:g.177409580T>C GRCh38
NC_000005.9:g.176836581T>C , CM000667.1:g.176836581T>C GRCh37
NC_000005.8:g.176769187T>C NCBI36
NG_007568.1:g.4997A>G , LRG_145:g.4997A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696200.1:n.79-28A>G (F12)
ENST00000502598.5:c.-45+6054T>C (GRK6) ENSP00000422873.1:n.-45+6054T>C
ENST00000506296.5:c.-45+5023T>C (GRK6) ENSP00000421055.1:n.-45+5023T>C
XM_011534461.1:c.-25-28A>G (F12) XP_011532763.1:n.-25-28A>G
XM_017009773.2:c.1417-2184T>C (SLC34A1) XP_016865262.1:n.1417-2184T>C