Canonical Allele Identifier: CA2578497160
Gene: F12 HGNC NCBI
GRK6 HGNC NCBI
SLC34A1 HGNC NCBI

Linked Data

gnomAD v4: 5-177409582-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177409582G>T , CM000667.2:g.177409582G>T GRCh38
NC_000005.9:g.176836583G>T , CM000667.1:g.176836583G>T GRCh37
NC_000005.8:g.176769189G>T NCBI36
NG_007568.1:g.4995C>A , LRG_145:g.4995C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696200.1:n.79-30C>A (F12)
ENST00000502598.5:c.-45+6056G>T (GRK6) ENSP00000422873.1:n.-45+6056G>T
ENST00000506296.5:c.-45+5025G>T (GRK6) ENSP00000421055.1:n.-45+5025G>T
XM_011534461.1:c.-25-30C>A (F12) XP_011532763.1:n.-25-30C>A
XM_017009773.2:c.1417-2182G>T (SLC34A1) XP_016865262.1:n.1417-2182G>T
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