Canonical Allele Identifier: CA364720102

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310161A>C (hg19) ; chr6:g.73600438A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600438A>C , CM000668.2:g.73600438A>C	GRCh38
NC_000006.11:g.74310161A>C , CM000668.1:g.74310161A>C	GRCh37
NC_000006.10:g.74366882A>C	NCBI36
NG_008272.1:g.58577T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1263T>G MANE Select	ENSP00000348019.5:p.Tyr421Ter
ENST00000355773.5:c.1263T>G	ENSP00000348019.5:p.Tyr421Ter
NM_012434.4:c.1263T>G	NP_036566.1:p.Tyr421Ter
XM_005248710.2:c.1212T>G	XP_005248767.1:p.Tyr404Ter
XM_005248711.1:c.1065T>G	XP_005248768.1:p.Tyr355Ter
XM_011535750.1:c.1115T>G	XP_011534052.1:p.Met372Arg
NM_012434.5:c.1263T>G MANE Select	NP_036566.1:p.Tyr421Ter
NM_001382629.1:c.1032T>G	NP_001369558.1:p.Tyr344Ter
NM_001382630.1:c.1260-5224T>G	NP_001369559.1:n.1260-5224T>G
NM_001382631.1:c.1284T>G	NP_001369560.1:p.Tyr428Ter
NM_001382632.1:c.1176T>G	NP_001369561.1:p.Tyr392Ter
NM_001382633.1:c.1263T>G	NP_001369562.1:p.Tyr421Ter
NM_001382634.1:c.1104T>G	NP_001369563.1:p.Tyr368Ter
NM_001382635.1:c.1260T>G	NP_001369564.1:p.Tyr420Ter
NM_001382636.1:c.945T>G	NP_001369565.1:p.Tyr315Ter