Canonical Allele Identifier: CA364720076

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310148G>T (hg19) ; chr6:g.73600425G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600425G>T , CM000668.2:g.73600425G>T	GRCh38
NC_000006.11:g.74310148G>T , CM000668.1:g.74310148G>T	GRCh37
NC_000006.10:g.74366869G>T	NCBI36
NG_008272.1:g.58590C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1276C>A MANE Select	ENSP00000348019.5:p.Leu426Met
ENST00000355773.5:c.1276C>A	ENSP00000348019.5:p.Leu426Met
NM_012434.4:c.1276C>A	NP_036566.1:p.Leu426Met
XM_005248710.2:c.1225C>A	XP_005248767.1:p.Leu409Met
XM_005248711.1:c.1078C>A	XP_005248768.1:p.Leu360Met
XM_011535750.1:c.1128C>A	XP_011534052.1:p.Ser376=
NM_012434.5:c.1276C>A MANE Select	NP_036566.1:p.Leu426Met
NM_001382629.1:c.1045C>A	NP_001369558.1:p.Leu349Met
NM_001382630.1:c.1260-5211C>A	NP_001369559.1:n.1260-5211C>A
NM_001382631.1:c.1297C>A	NP_001369560.1:p.Leu433Met
NM_001382632.1:c.1189C>A	NP_001369561.1:p.Leu397Met
NM_001382633.1:c.1276C>A	NP_001369562.1:p.Leu426Met
NM_001382634.1:c.1117C>A	NP_001369563.1:p.Leu373Met
NM_001382635.1:c.1273C>A	NP_001369564.1:p.Leu425Met
NM_001382636.1:c.958C>A	NP_001369565.1:p.Leu320Met