Canonical Allele Identifier: CA364720008

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310117G>A (hg19) ; chr6:g.73600394G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600394G>A , CM000668.2:g.73600394G>A	GRCh38
NC_000006.11:g.74310117G>A , CM000668.1:g.74310117G>A	GRCh37
NC_000006.10:g.74366838G>A	NCBI36
NG_008272.1:g.58621C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1307C>T MANE Select	ENSP00000348019.5:p.Pro436Leu
ENST00000355773.5:c.1307C>T	ENSP00000348019.5:p.Pro436Leu
NM_012434.4:c.1307C>T	NP_036566.1:p.Pro436Leu
XM_005248710.2:c.1256C>T	XP_005248767.1:p.Pro419Leu
XM_005248711.1:c.1109C>T	XP_005248768.1:p.Pro370Leu
XM_011535750.1:c.1159C>T	XP_011534052.1:p.Gln387Ter
NM_012434.5:c.1307C>T MANE Select	NP_036566.1:p.Pro436Leu
NM_001382629.1:c.1076C>T	NP_001369558.1:p.Pro359Leu
NM_001382630.1:c.1260-5180C>T	NP_001369559.1:n.1260-5180C>T
NM_001382631.1:c.1328C>T	NP_001369560.1:p.Pro443Leu
NM_001382632.1:c.1220C>T	NP_001369561.1:p.Pro407Leu
NM_001382633.1:c.1307C>T	NP_001369562.1:p.Pro436Leu
NM_001382634.1:c.1148C>T	NP_001369563.1:p.Pro383Leu
NM_001382635.1:c.1304C>T	NP_001369564.1:p.Pro435Leu
NM_001382636.1:c.989C>T	NP_001369565.1:p.Pro330Leu