Canonical Allele Identifier: CA364720962

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 1315248
• ClinVar RCV Id: RCV001774498
• dbSNP Id: rs1265357673
• gnomAD v2: 6-74320162-G-A
• gnomAD v4: 6-73610439-G-A
• MyVariant Identifiers: chr6:g.74320162G>A (hg19) ; chr6:g.73610439G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73610439G>A , CM000668.2:g.73610439G>A	GRCh38
NC_000006.11:g.74320162G>A , CM000668.1:g.74320162G>A	GRCh37
NC_000006.10:g.74376883G>A	NCBI36
NG_008272.1:g.48576C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1220C>T MANE Select	ENSP00000348019.5:p.Ser407Phe
ENST00000355773.5:c.1220C>T	ENSP00000348019.5:p.Ser407Phe
NM_012434.4:c.1220C>T	NP_036566.1:p.Ser407Phe
XM_005248710.2:c.1169C>T	XP_005248767.1:p.Ser390Phe
XM_005248711.1:c.1022C>T	XP_005248768.1:p.Ser341Phe
XM_011535750.1:c.1111+4876C>T	XP_011534052.1:n.1111+4876C>T
NM_012434.5:c.1220C>T MANE Select	NP_036566.1:p.Ser407Phe
NM_001382629.1:c.989C>T	NP_001369558.1:p.Ser330Phe
NM_001382630.1:c.1220C>T	NP_001369559.1:p.Ser407Phe
NM_001382631.1:c.1241C>T	NP_001369560.1:p.Ser414Phe
NM_001382632.1:c.1133C>T	NP_001369561.1:p.Ser378Phe
NM_001382633.1:c.1220C>T	NP_001369562.1:p.Ser407Phe
NM_001382634.1:c.1061C>T	NP_001369563.1:p.Ser354Phe
NM_001382635.1:c.1217C>T	NP_001369564.1:p.Ser406Phe
NM_001382636.1:c.902C>T	NP_001369565.1:p.Ser301Phe