Canonical Allele Identifier: CA364720083

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310152G>C (hg19) ; chr6:g.73600429G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600429G>C , CM000668.2:g.73600429G>C	GRCh38
NC_000006.11:g.74310152G>C , CM000668.1:g.74310152G>C	GRCh37
NC_000006.10:g.74366873G>C	NCBI36
NG_008272.1:g.58586C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1272C>G MANE Select	ENSP00000348019.5:p.Ile424Met
ENST00000355773.5:c.1272C>G	ENSP00000348019.5:p.Ile424Met
NM_012434.4:c.1272C>G	NP_036566.1:p.Ile424Met
XM_005248710.2:c.1221C>G	XP_005248767.1:p.Ile407Met
XM_005248711.1:c.1074C>G	XP_005248768.1:p.Ile358Met
XM_011535750.1:c.1124C>G	XP_011534052.1:p.Ser375Cys
NM_012434.5:c.1272C>G MANE Select	NP_036566.1:p.Ile424Met
NM_001382629.1:c.1041C>G	NP_001369558.1:p.Ile347Met
NM_001382630.1:c.1260-5215C>G	NP_001369559.1:n.1260-5215C>G
NM_001382631.1:c.1293C>G	NP_001369560.1:p.Ile431Met
NM_001382632.1:c.1185C>G	NP_001369561.1:p.Ile395Met
NM_001382633.1:c.1272C>G	NP_001369562.1:p.Ile424Met
NM_001382634.1:c.1113C>G	NP_001369563.1:p.Ile371Met
NM_001382635.1:c.1269C>G	NP_001369564.1:p.Ile423Met
NM_001382636.1:c.954C>G	NP_001369565.1:p.Ile318Met