Canonical Allele Identifier: CA364719089

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74354227A>G (hg19) ; chr6:g.73644504A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644504A>G , CM000668.2:g.73644504A>G	GRCh38
NC_000006.11:g.74354227A>G , CM000668.1:g.74354227A>G	GRCh37
NC_000006.10:g.74410948A>G	NCBI36
NG_008272.1:g.14511T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.194T>C MANE Select	ENSP00000348019.5:p.Val65Ala
ENST00000355773.5:c.194T>C	ENSP00000348019.5:p.Val65Ala
NM_012434.4:c.194T>C	NP_036566.1:p.Val65Ala
XM_005248710.2:c.143T>C	XP_005248767.1:p.Val48Ala
XM_005248711.1:c.-5T>C	XP_005248768.1:n.-5T>C
XM_011535750.1:c.194T>C	XP_011534052.1:p.Val65Ala
XM_011535751.1:c.194T>C	XP_011534053.1:p.Val65Ala
NM_012434.5:c.194T>C MANE Select	NP_036566.1:p.Val65Ala
NM_001382629.1:c.61-2580T>C	NP_001369558.1:n.61-2580T>C
NM_001382630.1:c.194T>C	NP_001369559.1:p.Val65Ala
NM_001382631.1:c.215T>C	NP_001369560.1:p.Val72Ala
NM_001382632.1:c.194T>C	NP_001369561.1:p.Val65Ala
NM_001382633.1:c.194T>C	NP_001369562.1:p.Val65Ala
NM_001382634.1:c.194T>C	NP_001369563.1:p.Val65Ala
NM_001382635.1:c.194T>C	NP_001369564.1:p.Val65Ala
NM_001382636.1:c.61-2580T>C	NP_001369565.1:n.61-2580T>C