Canonical Allele Identifier: CA364720030

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310127C>G (hg19) ; chr6:g.73600404C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600404C>G , CM000668.2:g.73600404C>G	GRCh38
NC_000006.11:g.74310127C>G , CM000668.1:g.74310127C>G	GRCh37
NC_000006.10:g.74366848C>G	NCBI36
NG_008272.1:g.58611G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1297G>C MANE Select	ENSP00000348019.5:p.Ala433Pro
ENST00000355773.5:c.1297G>C	ENSP00000348019.5:p.Ala433Pro
NM_012434.4:c.1297G>C	NP_036566.1:p.Ala433Pro
XM_005248710.2:c.1246G>C	XP_005248767.1:p.Ala416Pro
XM_005248711.1:c.1099G>C	XP_005248768.1:p.Ala367Pro
XM_011535750.1:c.1149G>C	XP_011534052.1:p.Leu383Phe
NM_012434.5:c.1297G>C MANE Select	NP_036566.1:p.Ala433Pro
NM_001382629.1:c.1066G>C	NP_001369558.1:p.Ala356Pro
NM_001382630.1:c.1260-5190G>C	NP_001369559.1:n.1260-5190G>C
NM_001382631.1:c.1318G>C	NP_001369560.1:p.Ala440Pro
NM_001382632.1:c.1210G>C	NP_001369561.1:p.Ala404Pro
NM_001382633.1:c.1297G>C	NP_001369562.1:p.Ala433Pro
NM_001382634.1:c.1138G>C	NP_001369563.1:p.Ala380Pro
NM_001382635.1:c.1294G>C	NP_001369564.1:p.Ala432Pro
NM_001382636.1:c.979G>C	NP_001369565.1:p.Ala327Pro