Canonical Allele Identifier: CA364721181

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74320258G>A (hg19) ; chr6:g.73610535G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73610535G>A , CM000668.2:g.73610535G>A	GRCh38
NC_000006.11:g.74320258G>A , CM000668.1:g.74320258G>A	GRCh37
NC_000006.10:g.74376979G>A	NCBI36
NG_008272.1:g.48480C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1124C>T MANE Select	ENSP00000348019.5:p.Pro375Leu
ENST00000355773.5:c.1124C>T	ENSP00000348019.5:p.Pro375Leu
NM_012434.4:c.1124C>T	NP_036566.1:p.Pro375Leu
XM_005248710.2:c.1073C>T	XP_005248767.1:p.Pro358Leu
XM_005248711.1:c.926C>T	XP_005248768.1:p.Pro309Leu
XM_011535750.1:c.1111+4780C>T	XP_011534052.1:n.1111+4780C>T
NM_012434.5:c.1124C>T MANE Select	NP_036566.1:p.Pro375Leu
NM_001382629.1:c.893C>T	NP_001369558.1:p.Pro298Leu
NM_001382630.1:c.1124C>T	NP_001369559.1:p.Pro375Leu
NM_001382631.1:c.1145C>T	NP_001369560.1:p.Pro382Leu
NM_001382632.1:c.1037C>T	NP_001369561.1:p.Pro346Leu
NM_001382633.1:c.1124C>T	NP_001369562.1:p.Pro375Leu
NM_001382634.1:c.965C>T	NP_001369563.1:p.Pro322Leu
NM_001382635.1:c.1121C>T	NP_001369564.1:p.Pro374Leu
NM_001382636.1:c.806C>T	NP_001369565.1:p.Pro269Leu