Canonical Allele Identifier: CA364716334

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 1209792
• ClinVar RCV Id: RCV001579128 ; RCV001579129
• dbSNP Id: rs386833993
• gnomAD v4: 6-73635482-C-A
• MyVariant Identifiers: chr6:g.74345205C>A (hg19) ; chr6:g.73635482C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73635482C>A , CM000668.2:g.73635482C>A	GRCh38
NC_000006.11:g.74345205C>A , CM000668.1:g.74345205C>A	GRCh37
NC_000006.10:g.74401926C>A	NCBI36
NG_008272.1:g.23533G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.719G>T MANE Select	ENSP00000348019.5:p.Trp240Leu
ENST00000355773.5:c.719G>T	ENSP00000348019.5:p.Trp240Leu
ENST00000481996.1:n.485G>T
NM_012434.4:c.719G>T	NP_036566.1:p.Trp240Leu
XM_005248710.2:c.668G>T	XP_005248767.1:p.Trp223Leu
XM_005248711.1:c.521G>T	XP_005248768.1:p.Trp174Leu
XM_011535750.1:c.719G>T	XP_011534052.1:p.Trp240Leu
XM_011535751.1:c.719G>T	XP_011534053.1:p.Trp240Leu
NM_012434.5:c.719G>T MANE Select	NP_036566.1:p.Trp240Leu
NM_001382629.1:c.488G>T	NP_001369558.1:p.Trp163Leu
NM_001382630.1:c.719G>T	NP_001369559.1:p.Trp240Leu
NM_001382631.1:c.740G>T	NP_001369560.1:p.Trp247Leu
NM_001382632.1:c.632G>T	NP_001369561.1:p.Trp211Leu
NM_001382633.1:c.719G>T	NP_001369562.1:p.Trp240Leu
NM_001382634.1:c.719G>T	NP_001369563.1:p.Trp240Leu
NM_001382635.1:c.716G>T	NP_001369564.1:p.Trp239Leu
NM_001382636.1:c.401G>T	NP_001369565.1:p.Trp134Leu