Canonical Allele Identifier: CA3890541

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 2139477
• ClinVar RCV Id: RCV003052616
• dbSNP Id: rs754164697
• ExAC: 6:74351566 G / A
• gnomAD v2: 6-74351566-G-A
• gnomAD v3: 6-73641843-G-A
• gnomAD v4: 6-73641843-G-A
• COSMIC: COSM5907431
• MyVariant Identifiers: chr6:g.74351566G>A (hg19) ; chr6:g.73641843G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73641843G>A , CM000668.2:g.73641843G>A	GRCh38
NC_000006.11:g.74351566G>A , CM000668.1:g.74351566G>A	GRCh37
NC_000006.10:g.74408287G>A	NCBI36
NG_008272.1:g.17172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.373C>T MANE Select	ENSP00000348019.5:p.Pro125Ser
ENST00000355773.5:c.373C>T	ENSP00000348019.5:p.Pro125Ser
ENST00000481996.1:n.139C>T
NM_012434.4:c.373C>T	NP_036566.1:p.Pro125Ser
XM_005248710.2:c.322C>T	XP_005248767.1:p.Pro108Ser
XM_005248711.1:c.175C>T	XP_005248768.1:p.Pro59Ser
XM_011535750.1:c.373C>T	XP_011534052.1:p.Pro125Ser
XM_011535751.1:c.373C>T	XP_011534053.1:p.Pro125Ser
NM_012434.5:c.373C>T MANE Select	NP_036566.1:p.Pro125Ser
NM_001382629.1:c.142C>T	NP_001369558.1:p.Pro48Ser
NM_001382630.1:c.373C>T	NP_001369559.1:p.Pro125Ser
NM_001382631.1:c.394C>T	NP_001369560.1:p.Pro132Ser
NM_001382632.1:c.373C>T	NP_001369561.1:p.Pro125Ser
NM_001382633.1:c.373C>T	NP_001369562.1:p.Pro125Ser
NM_001382634.1:c.373C>T	NP_001369563.1:p.Pro125Ser
NM_001382635.1:c.373C>T	NP_001369564.1:p.Pro125Ser
NM_001382636.1:c.142C>T	NP_001369565.1:p.Pro48Ser