Canonical Allele Identifier: CA1120703469
Gene: SLC1A1 HGNC NCBI

Linked Data

gnomAD v3: 9-4507233-T-A
gnomAD v4: 9-4507233-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4507233T>A , CM000671.2:g.4507233T>A GRCh38
NC_000009.11:g.4507233T>A , CM000671.1:g.4507233T>A GRCh37
NC_000009.10:g.4497233T>A NCBI36
NG_017044.1:g.21807T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262352.8:c.91+16463T>A MANE Select ENSP00000262352.3:n.91+16463T>A
ENST00000262352.7:c.91+16463T>A ENSP00000262352.3:n.91+16463T>A
NM_004170.5:c.91+16463T>A NP_004161.4:n.91+16463T>A
XM_011518007.1:c.92-12595T>A XP_011516309.1:n.92-12595T>A
XM_011518010.1:c.91+16463T>A XP_011516312.1:n.91+16463T>A
XM_017015042.1:c.92-12595T>A XP_016870531.1:n.92-12595T>A
XM_017015043.1:c.91+16463T>A XP_016870532.1:n.91+16463T>A
NM_004170.6:c.91+16463T>A MANE Select NP_004161.4:n.91+16463T>A
Search 100 bp 5'
Search 100 bp 3'