Canonical Allele Identifier: CA136219477
Gene: SLC17A1 HGNC NCBI

Linked Data

dbSNP Id: rs750162832
gnomAD v2: 6-25787832-C-T
gnomAD v3: 6-25787604-C-T
gnomAD v4: 6-25787604-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.25787604C>T , CM000668.2:g.25787604C>T GRCh38
NC_000006.11:g.25787832C>T , CM000668.1:g.25787832C>T GRCh37
NC_000006.10:g.25895811C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000244527.10:c.*3-4386G>A MANE Select ENSP00000244527.4:n.*3-4386G>A
ENST00000244527.8:c.*3-4386G>A ENSP00000244527.4:n.*3-4386G>A
ENST00000377886.6:c.*658-4386G>A ENSP00000367118.2:n.*658-4386G>A
NM_005074.3:c.*3-4386G>A NP_005065.2:n.*3-4386G>A
XM_011514818.1:c.1179-4386G>A XP_011513120.1:n.1179-4386G>A
XM_011514818.2:c.1329-4386G>A XP_011513120.2:n.1329-4386G>A
XM_017011200.1:c.*3-4386G>A XP_016866689.1:n.*3-4386G>A
XM_017011201.2:c.*2+11179G>A XP_016866690.1:n.*2+11179G>A
NM_005074.5:c.*3-4386G>A MANE Select NP_005065.2:n.*3-4386G>A