Canonical Allele Identifier: CA364716462

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74346361T>G (hg19) ; chr6:g.73636638T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73636638T>G , CM000668.2:g.73636638T>G	GRCh38
NC_000006.11:g.74346361T>G , CM000668.1:g.74346361T>G	GRCh37
NC_000006.10:g.74403082T>G	NCBI36
NG_008272.1:g.22377A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.683A>C MANE Select	ENSP00000348019.5:p.Tyr228Ser
ENST00000355773.5:c.683A>C	ENSP00000348019.5:p.Tyr228Ser
ENST00000481996.1:n.449A>C
NM_012434.4:c.683A>C	NP_036566.1:p.Tyr228Ser
XM_005248710.2:c.632A>C	XP_005248767.1:p.Tyr211Ser
XM_005248711.1:c.485A>C	XP_005248768.1:p.Tyr162Ser
XM_011535750.1:c.683A>C	XP_011534052.1:p.Tyr228Ser
XM_011535751.1:c.683A>C	XP_011534053.1:p.Tyr228Ser
NM_012434.5:c.683A>C MANE Select	NP_036566.1:p.Tyr228Ser
NM_001382629.1:c.452A>C	NP_001369558.1:p.Tyr151Ser
NM_001382630.1:c.683A>C	NP_001369559.1:p.Tyr228Ser
NM_001382631.1:c.704A>C	NP_001369560.1:p.Tyr235Ser
NM_001382632.1:c.614-1138A>C	NP_001369561.1:n.614-1138A>C
NM_001382633.1:c.683A>C	NP_001369562.1:p.Tyr228Ser
NM_001382634.1:c.683A>C	NP_001369563.1:p.Tyr228Ser
NM_001382635.1:c.680A>C	NP_001369564.1:p.Tyr227Ser
NM_001382636.1:c.383-1138A>C	NP_001369565.1:n.383-1138A>C