Canonical Allele Identifier: CA362334146

Gene: F12 GRK6 SLC34A1

Linked Data

• MyVariant Identifiers: chr5:g.176833062A>G (hg19) ; chr5:g.177406061A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177406061A>G , CM000667.2:g.177406061A>G	GRCh38
NC_000005.9:g.176833062A>G , CM000667.1:g.176833062A>G	GRCh37
NC_000005.8:g.176765668A>G	NCBI36
NG_007568.1:g.8516T>C , LRG_145:g.8516T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.116T>C (F12)	ENSP00000512476.1:p.Val39Ala
ENST00000696193.1:c.*40T>C (F12)	ENSP00000512477.1:n.*40T>C
ENST00000696194.1:c.116T>C (F12)	ENSP00000512478.1:p.Val39Ala
ENST00000696195.1:n.2473T>C (F12)
ENST00000696200.1:n.219T>C (F12)
ENST00000696201.1:c.116T>C (F12)	ENSP00000512482.1:p.Val39Ala
ENST00000253496.4:c.116T>C (F12) MANE Select	ENSP00000253496.3:p.Val39Ala
ENST00000253496.3:c.116T>C (F12)	ENSP00000253496.3:p.Val39Ala
ENST00000502598.5:c.-45+2535A>G (GRK6)	ENSP00000422873.1:n.-45+2535A>G
ENST00000506296.5:c.-45+1504A>G (GRK6)	ENSP00000421055.1:n.-45+1504A>G
NM_000505.3:c.116T>C , LRG_145t1:c.116T>C (F12)	NP_000496.2:p.Val39Ala
XM_011534461.1:c.116T>C (F12)	XP_011532763.1:p.Val39Ala
XM_017009773.2:c.1417-5703A>G (SLC34A1)	XP_016865262.1:n.1417-5703A>G
NM_000505.4:c.116T>C (F12) MANE Select	NP_000496.2:p.Val39Ala