Canonical Allele Identifier: CA362321728

Gene: F12 SLC34A1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177402460C>A , CM000667.2:g.177402460C>A	GRCh38
NC_000005.9:g.176829461C>A , CM000667.1:g.176829461C>A	GRCh37
NC_000005.8:g.176762067C>A	NCBI36
NG_007568.1:g.12117G>T , LRG_145:g.12117G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*1347-1G>T (F12)	ENSP00000512476.1:n.*1347-1G>T
ENST00000696193.1:c.*2068-1G>T (F12)	ENSP00000512477.1:n.*2068-1G>T
ENST00000696194.1:c.*1271-1G>T (F12)	ENSP00000512478.1:n.*1271-1G>T
ENST00000696195.1:n.4509G>T (F12)
ENST00000696200.1:n.2025-1G>T (F12)
ENST00000696201.1:c.1570-1G>T (F12)	ENSP00000512482.1:n.1570-1G>T
ENST00000253496.4:c.1681-1G>T (F12) MANE Select	ENSP00000253496.3:n.1681-1G>T
ENST00000253496.3:c.1681-1G>T (F12)	ENSP00000253496.3:n.1681-1G>T
ENST00000502854.5:n.1181-1G>T (F12)
ENST00000504406.5:n.647-1G>T (F12)
ENST00000510358.5:n.1286-1G>T (F12)
NM_000505.3:c.1681-1G>T , LRG_145t1:c.1681-1G>T (F12)	NP_000496.2:n.1681-1G>T
XM_011534461.1:c.1681-1G>T (F12)	XP_011532763.1:n.1681-1G>T
XM_011534462.1:c.1345-1G>T (F12)	XP_011532764.1:n.1345-1G>T
XM_011534462.2:c.1345-1G>T (F12)	XP_011532764.1:n.1345-1G>T
XM_017009773.2:c.1416+5386C>A (SLC34A1)	XP_016865262.1:n.1416+5386C>A
NM_000505.4:c.1681-1G>T (F12) MANE Select	NP_000496.2:n.1681-1G>T