Canonical Allele Identifier: CA2581519650

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177409531A>C , CM000667.2:g.177409531A>C	GRCh38
NC_000005.9:g.176836532A>C , CM000667.1:g.176836532A>C	GRCh37
NC_000005.8:g.176769138A>C	NCBI36
NG_007568.1:g.5046T>G , LRG_145:g.5046T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000505.4:c.-4T>G (F12) MANE Select	NP_000496.2:n.-4T>G
ENST00000253496.4:c.-4T>G (F12) MANE Select	ENSP00000253496.3:n.-4T>G
NM_000505.3:c.-4T>G , LRG_145t1:c.-4T>G (F12)	NP_000496.2:n.-4T>G
ENST00000253496.3:c.-4T>G (F12)	ENSP00000253496.3:n.-4T>G
ENST00000502598.5:c.-45+6005A>C (GRK6)	ENSP00000422873.1:n.-45+6005A>C
ENST00000506296.5:c.-45+4974A>C (GRK6)	ENSP00000421055.1:n.-45+4974A>C
ENST00000696192.1:c.-4T>G (F12)	ENSP00000512476.1:n.-4T>G
ENST00000696193.1:c.-4T>G (F12)	ENSP00000512477.1:n.-4T>G
ENST00000696194.1:c.-4T>G (F12)	ENSP00000512478.1:n.-4T>G
ENST00000696195.1:n.45T>G (F12)
ENST00000696200.1:n.100T>G (F12)
ENST00000696201.1:c.-4T>G (F12)	ENSP00000512482.1:n.-4T>G
XM_011534461.1:c.-4T>G (F12)	XP_011532763.1:n.-4T>G
XM_017009773.2:c.1417-2233A>C (SLC34A1)	XP_016865262.1:n.1417-2233A>C