Canonical Allele Identifier: CA362333980

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1763281888
• MyVariant Identifiers: chr5:g.176833030G>C (hg19) ; chr5:g.177406029G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177406029G>C , CM000667.2:g.177406029G>C	GRCh38
NC_000005.9:g.176833030G>C , CM000667.1:g.176833030G>C	GRCh37
NC_000005.8:g.176765636G>C	NCBI36
NG_007568.1:g.8548C>G , LRG_145:g.8548C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.148C>G (F12)	ENSP00000512476.1:p.Pro50Ala
ENST00000696193.1:c.*72C>G (F12)	ENSP00000512477.1:n.*72C>G
ENST00000696194.1:c.148C>G (F12)	ENSP00000512478.1:p.Pro50Ala
ENST00000696195.1:n.2505C>G (F12)
ENST00000696200.1:n.251C>G (F12)
ENST00000696201.1:c.148C>G (F12)	ENSP00000512482.1:p.Pro50Ala
ENST00000253496.4:c.148C>G (F12) MANE Select	ENSP00000253496.3:p.Pro50Ala
ENST00000253496.3:c.148C>G (F12)	ENSP00000253496.3:p.Pro50Ala
ENST00000502598.5:c.-45+2503G>C (GRK6)	ENSP00000422873.1:n.-45+2503G>C
ENST00000506296.5:c.-45+1472G>C (GRK6)	ENSP00000421055.1:n.-45+1472G>C
NM_000505.3:c.148C>G , LRG_145t1:c.148C>G (F12)	NP_000496.2:p.Pro50Ala
XM_011534461.1:c.148C>G (F12)	XP_011532763.1:p.Pro50Ala
XM_017009773.2:c.1417-5735G>C (SLC34A1)	XP_016865262.1:n.1417-5735G>C
NM_000505.4:c.148C>G (F12) MANE Select	NP_000496.2:p.Pro50Ala