Canonical Allele Identifier: CA3581281

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs2230939
• ExAC: 5:176831085 G / T
• gnomAD v2: 5-176831085-G-T
• gnomAD v4: 5-177404084-G-T
• MyVariant Identifiers: chr5:g.176831085G>T (hg19) ; chr5:g.177404084G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404084G>T , CM000667.2:g.177404084G>T	GRCh38
NC_000005.9:g.176831085G>T , CM000667.1:g.176831085G>T	GRCh37
NC_000005.8:g.176763691G>T	NCBI36
NG_007568.1:g.10493C>A , LRG_145:g.10493C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696192.1:c.*691C>A (F12)	ENSP00000512476.1:n.*691C>A
ENST00000696193.1:c.*1412C>A (F12)	ENSP00000512477.1:n.*1412C>A
ENST00000696194.1:c.*615C>A (F12)	ENSP00000512478.1:n.*615C>A
ENST00000696195.1:n.3828C>A (F12)
ENST00000696200.1:n.1128C>A (F12)
ENST00000696201.1:c.1025C>A (F12)	ENSP00000512482.1:p.Pro342Gln
ENST00000253496.4:c.1025C>A (F12) MANE Select	ENSP00000253496.3:p.Pro342Gln
ENST00000253496.3:c.1025C>A (F12)	ENSP00000253496.3:p.Pro342Gln
ENST00000502598.5:c.-45+558G>T (GRK6)	ENSP00000422873.1:n.-45+558G>T
ENST00000502854.5:n.284C>A (F12)
ENST00000503736.1:n.397C>A (F12)
ENST00000510358.5:n.389C>A (F12)
NM_000505.3:c.1025C>A , LRG_145t1:c.1025C>A (F12)	NP_000496.2:p.Pro342Gln
XM_011534461.1:c.1025C>A (F12)	XP_011532763.1:p.Pro342Gln
XM_011534462.1:c.689C>A (F12)	XP_011532764.1:p.Pro230Gln
XM_011534462.2:c.689C>A (F12)	XP_011532764.1:p.Pro230Gln
XM_017009773.2:c.1416+7010G>T (SLC34A1)	XP_016865262.1:n.1416+7010G>T
NM_000505.4:c.1025C>A (F12) MANE Select	NP_000496.2:p.Pro342Gln