Canonical Allele Identifier: CA364718040

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73641760-G-C
• MyVariant Identifiers: chr6:g.74351483G>C (hg19) ; chr6:g.73641760G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73641760G>C , CM000668.2:g.73641760G>C	GRCh38
NC_000006.11:g.74351483G>C , CM000668.1:g.74351483G>C	GRCh37
NC_000006.10:g.74408204G>C	NCBI36
NG_008272.1:g.17255C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.456C>G MANE Select	ENSP00000348019.5:p.Phe152Leu
ENST00000355773.5:c.456C>G	ENSP00000348019.5:p.Phe152Leu
ENST00000481996.1:n.222C>G
NM_012434.4:c.456C>G	NP_036566.1:p.Phe152Leu
XM_005248710.2:c.405C>G	XP_005248767.1:p.Phe135Leu
XM_005248711.1:c.258C>G	XP_005248768.1:p.Phe86Leu
XM_011535750.1:c.456C>G	XP_011534052.1:p.Phe152Leu
XM_011535751.1:c.456C>G	XP_011534053.1:p.Phe152Leu
NM_012434.5:c.456C>G MANE Select	NP_036566.1:p.Phe152Leu
NM_001382629.1:c.225C>G	NP_001369558.1:p.Phe75Leu
NM_001382630.1:c.456C>G	NP_001369559.1:p.Phe152Leu
NM_001382631.1:c.477C>G	NP_001369560.1:p.Phe159Leu
NM_001382632.1:c.456C>G	NP_001369561.1:p.Phe152Leu
NM_001382633.1:c.456C>G	NP_001369562.1:p.Phe152Leu
NM_001382634.1:c.456C>G	NP_001369563.1:p.Phe152Leu
NM_001382635.1:c.456C>G	NP_001369564.1:p.Phe152Leu
NM_001382636.1:c.225C>G	NP_001369565.1:p.Phe75Leu