Canonical Allele Identifier: CA3581407

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs769873552
• ExAC: 5:176831608 G / T
• gnomAD v2: 5-176831608-G-T
• gnomAD v4: 5-177404607-G-T
• MyVariant Identifiers: chr5:g.176831608G>T (hg19) ; chr5:g.177404607G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404607G>T , CM000667.2:g.177404607G>T	GRCh38
NC_000005.9:g.176831608G>T , CM000667.1:g.176831608G>T	GRCh37
NC_000005.8:g.176764214G>T	NCBI36
NG_007568.1:g.9970C>A , LRG_145:g.9970C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*358C>A (F12)	ENSP00000512476.1:n.*358C>A
ENST00000696193.1:c.*1062C>A (F12)	ENSP00000512477.1:n.*1062C>A
ENST00000696194.1:c.*282C>A (F12)	ENSP00000512478.1:n.*282C>A
ENST00000696195.1:n.3495C>A (F12)
ENST00000696200.1:n.795C>A (F12)
ENST00000696201.1:c.692C>A (F12)	ENSP00000512482.1:p.Thr231Asn
ENST00000253496.4:c.692C>A (F12) MANE Select	ENSP00000253496.3:p.Thr231Asn
ENST00000253496.3:c.692C>A (F12)	ENSP00000253496.3:p.Thr231Asn
ENST00000502598.5:c.-45+1081G>T (GRK6)	ENSP00000422873.1:n.-45+1081G>T
ENST00000503736.1:n.173-194C>A (F12)
ENST00000506296.5:c.-45+50G>T (GRK6)	ENSP00000421055.1:n.-45+50G>T
NM_000505.3:c.692C>A , LRG_145t1:c.692C>A (F12)	NP_000496.2:p.Thr231Asn
XM_011534461.1:c.692C>A (F12)	XP_011532763.1:p.Thr231Asn
XM_011534462.1:c.356C>A (F12)	XP_011532764.1:p.Thr119Asn
XM_011534462.2:c.356C>A (F12)	XP_011532764.1:p.Thr119Asn
XM_017009773.2:c.1417-7157G>T (SLC34A1)	XP_016865262.1:n.1417-7157G>T
NM_000505.4:c.692C>A (F12) MANE Select	NP_000496.2:p.Thr231Asn