Canonical Allele Identifier: CA362329523

Gene: F12 GRK6 SLC34A1

Linked Data

• MyVariant Identifiers: chr5:g.176831660T>G (hg19) ; chr5:g.177404659T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404659T>G , CM000667.2:g.177404659T>G	GRCh38
NC_000005.9:g.176831660T>G , CM000667.1:g.176831660T>G	GRCh37
NC_000005.8:g.176764266T>G	NCBI36
NG_007568.1:g.9918A>C , LRG_145:g.9918A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*306A>C (F12)	ENSP00000512476.1:n.*306A>C
ENST00000696193.1:c.*1010A>C (F12)	ENSP00000512477.1:n.*1010A>C
ENST00000696194.1:c.*230A>C (F12)	ENSP00000512478.1:n.*230A>C
ENST00000696195.1:n.3443A>C (F12)
ENST00000696200.1:n.743A>C (F12)
ENST00000696201.1:c.640A>C (F12)	ENSP00000512482.1:p.Lys214Gln
ENST00000253496.4:c.640A>C (F12) MANE Select	ENSP00000253496.3:p.Lys214Gln
ENST00000253496.3:c.640A>C (F12)	ENSP00000253496.3:p.Lys214Gln
ENST00000502598.5:c.-45+1133T>G (GRK6)	ENSP00000422873.1:n.-45+1133T>G
ENST00000503736.1:n.172+151A>C (F12)
ENST00000506296.5:c.-45+102T>G (GRK6)	ENSP00000421055.1:n.-45+102T>G
NM_000505.3:c.640A>C , LRG_145t1:c.640A>C (F12)	NP_000496.2:p.Lys214Gln
XM_011534461.1:c.640A>C (F12)	XP_011532763.1:p.Lys214Gln
XM_011534462.1:c.304A>C (F12)	XP_011532764.1:p.Lys102Gln
XM_011534462.2:c.304A>C (F12)	XP_011532764.1:p.Lys102Gln
XM_017009773.2:c.1417-7105T>G (SLC34A1)	XP_016865262.1:n.1417-7105T>G
NM_000505.4:c.640A>C (F12) MANE Select	NP_000496.2:p.Lys214Gln