Canonical Allele Identifier: CA16041082
Gene: SLC17A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 371127
dbSNP Id: rs1057517028
gnomAD v2: 6-74345104-C-T
gnomAD v3: 6-73635381-C-T
gnomAD v4: 6-73635381-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73635381C>T , CM000668.2:g.73635381C>T GRCh38
NC_000006.11:g.74345104C>T , CM000668.1:g.74345104C>T GRCh37
NC_000006.10:g.74401825C>T NCBI36
NG_008272.1:g.23634G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355773.6:c.819+1G>A MANE Select ENSP00000348019.5:n.819+1G>A
ENST00000355773.5:c.819+1G>A ENSP00000348019.5:n.819+1G>A
ENST00000481996.1:n.586G>A
NM_012434.4:c.819+1G>A NP_036566.1:n.819+1G>A
XM_005248710.2:c.768+1G>A XP_005248767.1:n.768+1G>A
XM_005248711.1:c.621+1G>A XP_005248768.1:n.621+1G>A
XM_011535750.1:c.819+1G>A XP_011534052.1:n.819+1G>A
XM_011535751.1:c.819+1G>A XP_011534053.1:n.819+1G>A
NM_012434.5:c.819+1G>A MANE Select NP_036566.1:n.819+1G>A
NM_001382629.1:c.588+1G>A NP_001369558.1:n.588+1G>A
NM_001382630.1:c.819+1G>A NP_001369559.1:n.819+1G>A
NM_001382631.1:c.840+1G>A NP_001369560.1:n.840+1G>A
NM_001382632.1:c.732+1G>A NP_001369561.1:n.732+1G>A
NM_001382633.1:c.819+1G>A NP_001369562.1:n.819+1G>A
NM_001382634.1:c.819+1G>A NP_001369563.1:n.819+1G>A
NM_001382635.1:c.816+1G>A NP_001369564.1:n.816+1G>A
NM_001382636.1:c.501+1G>A NP_001369565.1:n.501+1G>A