Canonical Allele Identifier: CA362329450

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs367623070
• gnomAD v3: 5-177404642-A-C
• gnomAD v4: 5-177404642-A-C
• MyVariant Identifiers: chr5:g.176831643A>C (hg19) ; chr5:g.177404642A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404642A>C , CM000667.2:g.177404642A>C	GRCh38
NC_000005.9:g.176831643A>C , CM000667.1:g.176831643A>C	GRCh37
NC_000005.8:g.176764249A>C	NCBI36
NG_007568.1:g.9935T>G , LRG_145:g.9935T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*323T>G (F12)	ENSP00000512476.1:n.*323T>G
ENST00000696193.1:c.*1027T>G (F12)	ENSP00000512477.1:n.*1027T>G
ENST00000696194.1:c.*247T>G (F12)	ENSP00000512478.1:n.*247T>G
ENST00000696195.1:n.3460T>G (F12)
ENST00000696200.1:n.760T>G (F12)
ENST00000696201.1:c.657T>G (F12)	ENSP00000512482.1:p.Asp219Glu
ENST00000253496.4:c.657T>G (F12) MANE Select	ENSP00000253496.3:p.Asp219Glu
ENST00000253496.3:c.657T>G (F12)	ENSP00000253496.3:p.Asp219Glu
ENST00000502598.5:c.-45+1116A>C (GRK6)	ENSP00000422873.1:n.-45+1116A>C
ENST00000503736.1:n.172+168T>G (F12)
ENST00000506296.5:c.-45+85A>C (GRK6)	ENSP00000421055.1:n.-45+85A>C
NM_000505.3:c.657T>G , LRG_145t1:c.657T>G (F12)	NP_000496.2:p.Asp219Glu
XM_011534461.1:c.657T>G (F12)	XP_011532763.1:p.Asp219Glu
XM_011534462.1:c.321T>G (F12)	XP_011532764.1:p.Asp107Glu
XM_011534462.2:c.321T>G (F12)	XP_011532764.1:p.Asp107Glu
XM_017009773.2:c.1417-7122A>C (SLC34A1)	XP_016865262.1:n.1417-7122A>C
NM_000505.4:c.657T>G (F12) MANE Select	NP_000496.2:p.Asp219Glu