Canonical Allele Identifier: CA12291424
Gene: SLC17A1 HGNC NCBI

Linked Data

dbSNP Id: rs2096386
gnomAD v2: 6-25787817-G-A
gnomAD v3: 6-25787589-G-A
gnomAD v4: 6-25787589-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.25787589G>A , CM000668.2:g.25787589G>A GRCh38
NC_000006.11:g.25787817G>A , CM000668.1:g.25787817G>A GRCh37
NC_000006.10:g.25895796G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000244527.10:c.*3-4371C>T MANE Select ENSP00000244527.4:n.*3-4371C>T
ENST00000244527.8:c.*3-4371C>T ENSP00000244527.4:n.*3-4371C>T
ENST00000377886.6:c.*658-4371C>T ENSP00000367118.2:n.*658-4371C>T
NM_005074.3:c.*3-4371C>T NP_005065.2:n.*3-4371C>T
XM_011514818.1:c.1179-4371C>T XP_011513120.1:n.1179-4371C>T
XM_011514818.2:c.1329-4371C>T XP_011513120.2:n.1329-4371C>T
XM_017011200.1:c.*3-4371C>T XP_016866689.1:n.*3-4371C>T
XM_017011201.2:c.*2+11194C>T XP_016866690.1:n.*2+11194C>T
NM_005074.5:c.*3-4371C>T MANE Select NP_005065.2:n.*3-4371C>T