Canonical Allele Identifier: CA10627556

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 357921
• ClinVar RCV Id: RCV000274133 ; RCV001095270
• dbSNP Id: rs886061735
• MyVariant Identifiers: chr6:g.74304930A>C (hg19) ; chr6:g.73595207A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73595207A>C , CM000668.2:g.73595207A>C	GRCh38
NC_000006.11:g.74304930A>C , CM000668.1:g.74304930A>C	GRCh37
NC_000006.10:g.74361651A>C	NCBI36
NG_008272.1:g.63808T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1358T>G MANE Select	ENSP00000348019.5:p.Val453Gly
ENST00000355773.5:c.1358T>G	ENSP00000348019.5:p.Val453Gly
NM_012434.4:c.1358T>G	NP_036566.1:p.Val453Gly
XM_005248710.2:c.1307T>G	XP_005248767.1:p.Val436Gly
XM_005248711.1:c.1160T>G	XP_005248768.1:p.Val387Gly
XM_011535750.1:c.*16T>G	XP_011534052.1:n.*16T>G
NM_012434.5:c.1358T>G MANE Select	NP_036566.1:p.Val453Gly
NM_001382629.1:c.1127T>G	NP_001369558.1:p.Val376Gly
NM_001382630.1:c.1267T>G	NP_001369559.1:p.Leu423Val
NM_001382631.1:c.1379T>G	NP_001369560.1:p.Val460Gly
NM_001382632.1:c.1271T>G	NP_001369561.1:p.Val424Gly
NM_001382633.1:c.1456T>G	NP_001369562.1:p.Leu486Val
NM_001382634.1:c.1199T>G	NP_001369563.1:p.Val400Gly
NM_001382635.1:c.1355T>G	NP_001369564.1:p.Val452Gly
NM_001382636.1:c.1040T>G	NP_001369565.1:p.Val347Gly