Canonical Allele Identifier: CA364719982

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310103G>C (hg19) ; chr6:g.73600380G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600380G>C , CM000668.2:g.73600380G>C	GRCh38
NC_000006.11:g.74310103G>C , CM000668.1:g.74310103G>C	GRCh37
NC_000006.10:g.74366824G>C	NCBI36
NG_008272.1:g.58635C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1321C>G MANE Select	ENSP00000348019.5:p.Pro441Ala
ENST00000355773.5:c.1321C>G	ENSP00000348019.5:p.Pro441Ala
NM_012434.4:c.1321C>G	NP_036566.1:p.Pro441Ala
XM_005248710.2:c.1270C>G	XP_005248767.1:p.Pro424Ala
XM_005248711.1:c.1123C>G	XP_005248768.1:p.Pro375Ala
XM_011535750.1:c.1173C>G	XP_011534052.1:p.Gly391=
NM_012434.5:c.1321C>G MANE Select	NP_036566.1:p.Pro441Ala
NM_001382629.1:c.1090C>G	NP_001369558.1:p.Pro364Ala
NM_001382630.1:c.1260-5166C>G	NP_001369559.1:n.1260-5166C>G
NM_001382631.1:c.1342C>G	NP_001369560.1:p.Pro448Ala
NM_001382632.1:c.1234C>G	NP_001369561.1:p.Pro412Ala
NM_001382633.1:c.1321C>G	NP_001369562.1:p.Pro441Ala
NM_001382634.1:c.1162C>G	NP_001369563.1:p.Pro388Ala
NM_001382635.1:c.1318C>G	NP_001369564.1:p.Pro440Ala
NM_001382636.1:c.1003C>G	NP_001369565.1:p.Pro335Ala