Canonical Allele Identifier: CA10654681
Gene: F12 HGNC NCBI
GRK6 HGNC NCBI
SLC34A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 369463
ClinVar RCV Id: RCV002502417
dbSNP Id: rs187018744
gnomAD v2: 5-176836590-G-A
gnomAD v3: 5-177409589-G-A
gnomAD v4: 5-177409589-G-A
MyVariant Identifiers: chr5:g.176836590G>A (hg19) chr5:g.177409589G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177409589G>A , CM000667.2:g.177409589G>A GRCh38
NC_000005.9:g.176836590G>A , CM000667.1:g.176836590G>A GRCh37
NC_000005.8:g.176769196G>A NCBI36
NG_007568.1:g.4988C>T , LRG_145:g.4988C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696200.1:n.79-37C>T (F12)
ENST00000502598.5:c.-45+6063G>A (GRK6) ENSP00000422873.1:n.-45+6063G>A
ENST00000506296.5:c.-45+5032G>A (GRK6) ENSP00000421055.1:n.-45+5032G>A
XM_011534461.1:c.-25-37C>T (F12) XP_011532763.1:n.-25-37C>T
XM_017009773.2:c.1417-2175G>A (SLC34A1) XP_016865262.1:n.1417-2175G>A
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