Canonical Allele Identifier: CA2676711327

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177404169-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404169T>C , CM000667.2:g.177404169T>C	GRCh38
NC_000005.9:g.176831170T>C , CM000667.1:g.176831170T>C	GRCh37
NC_000005.8:g.176763776T>C	NCBI36
NG_007568.1:g.10408A>G , LRG_145:g.10408A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*684+27A>G (F12)	ENSP00000512476.1:n.*684+27A>G
ENST00000696193.1:c.*1388+27A>G (F12)	ENSP00000512477.1:n.*1388+27A>G
ENST00000696194.1:c.*608+27A>G (F12)	ENSP00000512478.1:n.*608+27A>G
ENST00000696195.1:n.3821+27A>G (F12)
ENST00000696200.1:n.1121+27A>G (F12)
ENST00000696201.1:c.1018+27A>G (F12)	ENSP00000512482.1:n.1018+27A>G
ENST00000253496.4:c.1018+27A>G (F12) MANE Select	ENSP00000253496.3:n.1018+27A>G
ENST00000253496.3:c.1018+27A>G (F12)	ENSP00000253496.3:n.1018+27A>G
ENST00000502598.5:c.-45+643T>C (GRK6)	ENSP00000422873.1:n.-45+643T>C
ENST00000502854.5:n.277+27A>G (F12)
ENST00000503736.1:n.390+27A>G (F12)
ENST00000510358.5:n.304A>G (F12)
NM_000505.3:c.1018+27A>G , LRG_145t1:c.1018+27A>G (F12)	NP_000496.2:n.1018+27A>G
XM_011534461.1:c.1018+27A>G (F12)	XP_011532763.1:n.1018+27A>G
XM_011534462.1:c.682+27A>G (F12)	XP_011532764.1:n.682+27A>G
XM_011534462.2:c.682+27A>G (F12)	XP_011532764.1:n.682+27A>G
XM_017009773.2:c.1416+7095T>C (SLC34A1)	XP_016865262.1:n.1416+7095T>C
NM_000505.4:c.1018+27A>G (F12) MANE Select	NP_000496.2:n.1018+27A>G