Canonical Allele Identifier: CA2679403348

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73600500-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600500C>A , CM000668.2:g.73600500C>A	GRCh38
NC_000006.11:g.74310223C>A , CM000668.1:g.74310223C>A	GRCh37
NC_000006.10:g.74366944C>A	NCBI36
NG_008272.1:g.58515G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1260-59G>T MANE Select	ENSP00000348019.5:n.1260-59G>T
ENST00000355773.5:c.1260-59G>T	ENSP00000348019.5:n.1260-59G>T
NM_012434.4:c.1260-59G>T	NP_036566.1:n.1260-59G>T
XM_005248710.2:c.1209-59G>T	XP_005248767.1:n.1209-59G>T
XM_005248711.1:c.1062-59G>T	XP_005248768.1:n.1062-59G>T
XM_011535750.1:c.1112-59G>T	XP_011534052.1:n.1112-59G>T
NM_012434.5:c.1260-59G>T MANE Select	NP_036566.1:n.1260-59G>T
NM_001382629.1:c.1029-59G>T	NP_001369558.1:n.1029-59G>T
NM_001382630.1:c.1260-5286G>T	NP_001369559.1:n.1260-5286G>T
NM_001382631.1:c.1281-59G>T	NP_001369560.1:n.1281-59G>T
NM_001382632.1:c.1173-59G>T	NP_001369561.1:n.1173-59G>T
NM_001382633.1:c.1260-59G>T	NP_001369562.1:n.1260-59G>T
NM_001382634.1:c.1101-59G>T	NP_001369563.1:n.1101-59G>T
NM_001382635.1:c.1257-59G>T	NP_001369564.1:n.1257-59G>T
NM_001382636.1:c.942-59G>T	NP_001369565.1:n.942-59G>T