Canonical Allele Identifier: CA364719991

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310109C>G (hg19) ; chr6:g.73600386C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600386C>G , CM000668.2:g.73600386C>G	GRCh38
NC_000006.11:g.74310109C>G , CM000668.1:g.74310109C>G	GRCh37
NC_000006.10:g.74366830C>G	NCBI36
NG_008272.1:g.58629G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1315G>C MANE Select	ENSP00000348019.5:p.Val439Leu
ENST00000355773.5:c.1315G>C	ENSP00000348019.5:p.Val439Leu
NM_012434.4:c.1315G>C	NP_036566.1:p.Val439Leu
XM_005248710.2:c.1264G>C	XP_005248767.1:p.Val422Leu
XM_005248711.1:c.1117G>C	XP_005248768.1:p.Val373Leu
XM_011535750.1:c.1167G>C	XP_011534052.1:p.Trp389Cys
NM_012434.5:c.1315G>C MANE Select	NP_036566.1:p.Val439Leu
NM_001382629.1:c.1084G>C	NP_001369558.1:p.Val362Leu
NM_001382630.1:c.1260-5172G>C	NP_001369559.1:n.1260-5172G>C
NM_001382631.1:c.1336G>C	NP_001369560.1:p.Val446Leu
NM_001382632.1:c.1228G>C	NP_001369561.1:p.Val410Leu
NM_001382633.1:c.1315G>C	NP_001369562.1:p.Val439Leu
NM_001382634.1:c.1156G>C	NP_001369563.1:p.Val386Leu
NM_001382635.1:c.1312G>C	NP_001369564.1:p.Val438Leu
NM_001382636.1:c.997G>C	NP_001369565.1:p.Val333Leu