Canonical Allele Identifier: CA447965047

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177404543-G-C
• MyVariant Identifiers: chr5:g.176831544G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404543G>C , CM000667.2:g.177404543G>C	GRCh38
NC_000005.9:g.176831544G>C , CM000667.1:g.176831544G>C	GRCh37
NC_000005.8:g.176764150G>C	NCBI36
NG_007568.1:g.10034C>G , LRG_145:g.10034C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*422C>G (F12)	ENSP00000512476.1:n.*422C>G
ENST00000696193.1:c.*1126C>G (F12)	ENSP00000512477.1:n.*1126C>G
ENST00000696194.1:c.*346C>G (F12)	ENSP00000512478.1:n.*346C>G
ENST00000696195.1:n.3559C>G (F12)
ENST00000696200.1:n.859C>G (F12)
ENST00000696201.1:c.756C>G (F12)	ENSP00000512482.1:p.Ala252=
ENST00000253496.4:c.756C>G (F12) MANE Select	ENSP00000253496.3:p.Ala252=
ENST00000253496.3:c.756C>G (F12)	ENSP00000253496.3:p.Ala252=
ENST00000502598.5:c.-45+1017G>C (GRK6)	ENSP00000422873.1:n.-45+1017G>C
ENST00000503736.1:n.173-130C>G (F12)
ENST00000506296.5:c.-59G>C (GRK6)	ENSP00000421055.1:n.-59G>C
NM_000505.3:c.756C>G , LRG_145t1:c.756C>G (F12)	NP_000496.2:p.Ala252=
XM_011534461.1:c.756C>G (F12)	XP_011532763.1:p.Ala252=
XM_011534462.1:c.420C>G (F12)	XP_011532764.1:p.Ala140=
XM_011534462.2:c.420C>G (F12)	XP_011532764.1:p.Ala140=
XM_017009773.2:c.1417-7221G>C (SLC34A1)	XP_016865262.1:n.1417-7221G>C
NM_000505.4:c.756C>G (F12) MANE Select	NP_000496.2:p.Ala252=