Canonical Allele Identifier: CA3890388

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 2435976
• ClinVar RCV Id: RCV003136726
• dbSNP Id: rs768647620
• ExAC: 6:74331537 T / C
• gnomAD v2: 6-74331537-T-C
• gnomAD v3: 6-73621814-T-C
• gnomAD v4: 6-73621814-T-C
• MyVariant Identifiers: chr6:g.74331537T>C (hg19) ; chr6:g.73621814T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621814T>C , CM000668.2:g.73621814T>C	GRCh38
NC_000006.11:g.74331537T>C , CM000668.1:g.74331537T>C	GRCh37
NC_000006.10:g.74388258T>C	NCBI36
NG_008272.1:g.37201A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.968A>G MANE Select	ENSP00000348019.5:p.Asn323Ser
ENST00000355773.5:c.968A>G	ENSP00000348019.5:p.Asn323Ser
NM_012434.4:c.968A>G	NP_036566.1:p.Asn323Ser
XM_005248710.2:c.917A>G	XP_005248767.1:p.Asn306Ser
XM_005248711.1:c.770A>G	XP_005248768.1:p.Asn257Ser
XM_011535750.1:c.968A>G	XP_011534052.1:p.Asn323Ser
NM_012434.5:c.968A>G MANE Select	NP_036566.1:p.Asn323Ser
NM_001382629.1:c.737A>G	NP_001369558.1:p.Asn246Ser
NM_001382630.1:c.968A>G	NP_001369559.1:p.Asn323Ser
NM_001382631.1:c.989A>G	NP_001369560.1:p.Asn330Ser
NM_001382632.1:c.881A>G	NP_001369561.1:p.Asn294Ser
NM_001382633.1:c.968A>G	NP_001369562.1:p.Asn323Ser
NM_001382634.1:c.820-6367A>G	NP_001369563.1:n.820-6367A>G
NM_001382635.1:c.965A>G	NP_001369564.1:p.Asn322Ser
NM_001382636.1:c.650A>G	NP_001369565.1:p.Asn217Ser