Canonical Allele Identifier: CA364719949

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310087C>G (hg19) ; chr6:g.73600364C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600364C>G , CM000668.2:g.73600364C>G	GRCh38
NC_000006.11:g.74310087C>G , CM000668.1:g.74310087C>G	GRCh37
NC_000006.10:g.74366808C>G	NCBI36
NG_008272.1:g.58651G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1337G>C MANE Select	ENSP00000348019.5:p.Ser446Thr
ENST00000355773.5:c.1337G>C	ENSP00000348019.5:p.Ser446Thr
NM_012434.4:c.1337G>C	NP_036566.1:p.Ser446Thr
XM_005248710.2:c.1286G>C	XP_005248767.1:p.Ser429Thr
XM_005248711.1:c.1139G>C	XP_005248768.1:p.Ser380Thr
XM_011535750.1:c.1189G>C	XP_011534052.1:p.Val397Leu
NM_012434.5:c.1337G>C MANE Select	NP_036566.1:p.Ser446Thr
NM_001382629.1:c.1106G>C	NP_001369558.1:p.Ser369Thr
NM_001382630.1:c.1260-5150G>C	NP_001369559.1:n.1260-5150G>C
NM_001382631.1:c.1358G>C	NP_001369560.1:p.Ser453Thr
NM_001382632.1:c.1250G>C	NP_001369561.1:p.Ser417Thr
NM_001382633.1:c.1337G>C	NP_001369562.1:p.Ser446Thr
NM_001382634.1:c.1178G>C	NP_001369563.1:p.Ser393Thr
NM_001382635.1:c.1334G>C	NP_001369564.1:p.Ser445Thr
NM_001382636.1:c.1019G>C	NP_001369565.1:p.Ser340Thr