Canonical Allele Identifier: CA362327575

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1561640720
• gnomAD v4: 5-177404009-A-T
• MyVariant Identifiers: chr5:g.176831010A>T (hg19) ; chr5:g.177404009A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404009A>T , CM000667.2:g.177404009A>T	GRCh38
NC_000005.9:g.176831010A>T , CM000667.1:g.176831010A>T	GRCh37
NC_000005.8:g.176763616A>T	NCBI36
NG_007568.1:g.10568T>A , LRG_145:g.10568T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*766T>A (F12)	ENSP00000512476.1:n.*766T>A
ENST00000696193.1:c.*1487T>A (F12)	ENSP00000512477.1:n.*1487T>A
ENST00000696194.1:c.*690T>A (F12)	ENSP00000512478.1:n.*690T>A
ENST00000696195.1:n.3903T>A (F12)
ENST00000696200.1:n.1203T>A (F12)
ENST00000696201.1:c.1100T>A (F12)	ENSP00000512482.1:p.Leu367Gln
ENST00000253496.4:c.1100T>A (F12) MANE Select	ENSP00000253496.3:p.Leu367Gln
ENST00000253496.3:c.1100T>A (F12)	ENSP00000253496.3:p.Leu367Gln
ENST00000502598.5:c.-45+483A>T (GRK6)	ENSP00000422873.1:n.-45+483A>T
ENST00000502854.5:n.359T>A (F12)
ENST00000503736.1:n.472T>A (F12)
ENST00000510358.5:n.464T>A (F12)
NM_000505.3:c.1100T>A , LRG_145t1:c.1100T>A (F12)	NP_000496.2:p.Leu367Gln
XM_011534461.1:c.1100T>A (F12)	XP_011532763.1:p.Leu367Gln
XM_011534462.1:c.764T>A (F12)	XP_011532764.1:p.Leu255Gln
XM_011534462.2:c.764T>A (F12)	XP_011532764.1:p.Leu255Gln
XM_017009773.2:c.1416+6935A>T (SLC34A1)	XP_016865262.1:n.1416+6935A>T
NM_000505.4:c.1100T>A (F12) MANE Select	NP_000496.2:p.Leu367Gln