Canonical Allele Identifier: CA3581374

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs751896426
• ExAC: 5:176831413 T / G
• gnomAD v2: 5-176831413-T-G
• MyVariant Identifiers: chr5:g.176831413T>G (hg19) ; chr5:g.177404412T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404412T>G , CM000667.2:g.177404412T>G	GRCh38
NC_000005.9:g.176831413T>G , CM000667.1:g.176831413T>G	GRCh37
NC_000005.8:g.176764019T>G	NCBI36
NG_007568.1:g.10165A>C , LRG_145:g.10165A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*468A>C (F12)	ENSP00000512476.1:n.*468A>C
ENST00000696193.1:c.*1172A>C (F12)	ENSP00000512477.1:n.*1172A>C
ENST00000696194.1:c.*392A>C (F12)	ENSP00000512478.1:n.*392A>C
ENST00000696195.1:n.3605A>C (F12)
ENST00000696200.1:n.905A>C (F12)
ENST00000696201.1:c.802A>C (F12)	ENSP00000512482.1:p.Asn268His
ENST00000253496.4:c.802A>C (F12) MANE Select	ENSP00000253496.3:p.Asn268His
ENST00000253496.3:c.802A>C (F12)	ENSP00000253496.3:p.Asn268His
ENST00000502598.5:c.-45+886T>G (GRK6)	ENSP00000422873.1:n.-45+886T>G
ENST00000502854.5:n.61A>C (F12)
ENST00000503736.1:n.174A>C (F12)
ENST00000506296.5:c.-190T>G (GRK6)	ENSP00000421055.1:n.-190T>G
ENST00000510358.5:n.61A>C (F12)
NM_000505.3:c.802A>C , LRG_145t1:c.802A>C (F12)	NP_000496.2:p.Asn268His
XM_011534461.1:c.802A>C (F12)	XP_011532763.1:p.Asn268His
XM_011534462.1:c.466A>C (F12)	XP_011532764.1:p.Asn156His
XM_011534462.2:c.466A>C (F12)	XP_011532764.1:p.Asn156His
XM_017009773.2:c.1416+7338T>G (SLC34A1)	XP_016865262.1:n.1416+7338T>G
NM_000505.4:c.802A>C (F12) MANE Select	NP_000496.2:p.Asn268His