Canonical Allele Identifier: CA362329504

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177404655-G-T
• MyVariant Identifiers: chr5:g.176831656G>T (hg19) ; chr5:g.177404655G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404655G>T , CM000667.2:g.177404655G>T	GRCh38
NC_000005.9:g.176831656G>T , CM000667.1:g.176831656G>T	GRCh37
NC_000005.8:g.176764262G>T	NCBI36
NG_007568.1:g.9922C>A , LRG_145:g.9922C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*310C>A (F12)	ENSP00000512476.1:n.*310C>A
ENST00000696193.1:c.*1014C>A (F12)	ENSP00000512477.1:n.*1014C>A
ENST00000696194.1:c.*234C>A (F12)	ENSP00000512478.1:n.*234C>A
ENST00000696195.1:n.3447C>A (F12)
ENST00000696200.1:n.747C>A (F12)
ENST00000696201.1:c.644C>A (F12)	ENSP00000512482.1:p.Ala215Glu
ENST00000253496.4:c.644C>A (F12) MANE Select	ENSP00000253496.3:p.Ala215Glu
ENST00000253496.3:c.644C>A (F12)	ENSP00000253496.3:p.Ala215Glu
ENST00000502598.5:c.-45+1129G>T (GRK6)	ENSP00000422873.1:n.-45+1129G>T
ENST00000503736.1:n.172+155C>A (F12)
ENST00000506296.5:c.-45+98G>T (GRK6)	ENSP00000421055.1:n.-45+98G>T
NM_000505.3:c.644C>A , LRG_145t1:c.644C>A (F12)	NP_000496.2:p.Ala215Glu
XM_011534461.1:c.644C>A (F12)	XP_011532763.1:p.Ala215Glu
XM_011534462.1:c.308C>A (F12)	XP_011532764.1:p.Ala103Glu
XM_011534462.2:c.308C>A (F12)	XP_011532764.1:p.Ala103Glu
XM_017009773.2:c.1417-7109G>T (SLC34A1)	XP_016865262.1:n.1417-7109G>T
NM_000505.4:c.644C>A (F12) MANE Select	NP_000496.2:p.Ala215Glu