Canonical Allele Identifier: CA364719095

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74354228C>A (hg19) ; chr6:g.73644505C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644505C>A , CM000668.2:g.73644505C>A	GRCh38
NC_000006.11:g.74354228C>A , CM000668.1:g.74354228C>A	GRCh37
NC_000006.10:g.74410949C>A	NCBI36
NG_008272.1:g.14510G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.193G>T MANE Select	ENSP00000348019.5:p.Val65Leu
ENST00000355773.5:c.193G>T	ENSP00000348019.5:p.Val65Leu
NM_012434.4:c.193G>T	NP_036566.1:p.Val65Leu
XM_005248710.2:c.142G>T	XP_005248767.1:p.Val48Leu
XM_005248711.1:c.-6G>T	XP_005248768.1:n.-6G>T
XM_011535750.1:c.193G>T	XP_011534052.1:p.Val65Leu
XM_011535751.1:c.193G>T	XP_011534053.1:p.Val65Leu
NM_012434.5:c.193G>T MANE Select	NP_036566.1:p.Val65Leu
NM_001382629.1:c.61-2581G>T	NP_001369558.1:n.61-2581G>T
NM_001382630.1:c.193G>T	NP_001369559.1:p.Val65Leu
NM_001382631.1:c.214G>T	NP_001369560.1:p.Val72Leu
NM_001382632.1:c.193G>T	NP_001369561.1:p.Val65Leu
NM_001382633.1:c.193G>T	NP_001369562.1:p.Val65Leu
NM_001382634.1:c.193G>T	NP_001369563.1:p.Val65Leu
NM_001382635.1:c.193G>T	NP_001369564.1:p.Val65Leu
NM_001382636.1:c.61-2581G>T	NP_001369565.1:n.61-2581G>T