Canonical Allele Identifier: CA364719103

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73644506-T-G
• MyVariant Identifiers: chr6:g.74354229T>G (hg19) ; chr6:g.73644506T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644506T>G , CM000668.2:g.73644506T>G	GRCh38
NC_000006.11:g.74354229T>G , CM000668.1:g.74354229T>G	GRCh37
NC_000006.10:g.74410950T>G	NCBI36
NG_008272.1:g.14509A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.192A>C MANE Select	ENSP00000348019.5:p.Leu64Phe
ENST00000355773.5:c.192A>C	ENSP00000348019.5:p.Leu64Phe
NM_012434.4:c.192A>C	NP_036566.1:p.Leu64Phe
XM_005248710.2:c.141A>C	XP_005248767.1:p.Leu47Phe
XM_005248711.1:c.-7A>C	XP_005248768.1:n.-7A>C
XM_011535750.1:c.192A>C	XP_011534052.1:p.Leu64Phe
XM_011535751.1:c.192A>C	XP_011534053.1:p.Leu64Phe
NM_012434.5:c.192A>C MANE Select	NP_036566.1:p.Leu64Phe
NM_001382629.1:c.61-2582A>C	NP_001369558.1:n.61-2582A>C
NM_001382630.1:c.192A>C	NP_001369559.1:p.Leu64Phe
NM_001382631.1:c.213A>C	NP_001369560.1:p.Leu71Phe
NM_001382632.1:c.192A>C	NP_001369561.1:p.Leu64Phe
NM_001382633.1:c.192A>C	NP_001369562.1:p.Leu64Phe
NM_001382634.1:c.192A>C	NP_001369563.1:p.Leu64Phe
NM_001382635.1:c.192A>C	NP_001369564.1:p.Leu64Phe
NM_001382636.1:c.61-2582A>C	NP_001369565.1:n.61-2582A>C