Canonical Allele Identifier: CA2590660408
Gene: SLC1A1 HGNC NCBI

Linked Data

dbSNP Id: rs2130808278
gnomAD v3: 9-4507205-A-T
gnomAD v4: 9-4507205-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4507205A>T , CM000671.2:g.4507205A>T GRCh38
NC_000009.11:g.4507205A>T , CM000671.1:g.4507205A>T GRCh37
NC_000009.10:g.4497205A>T NCBI36
NG_017044.1:g.21779A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262352.8:c.91+16435A>T MANE Select ENSP00000262352.3:n.91+16435A>T
ENST00000262352.7:c.91+16435A>T ENSP00000262352.3:n.91+16435A>T
NM_004170.5:c.91+16435A>T NP_004161.4:n.91+16435A>T
XM_011518007.1:c.92-12623A>T XP_011516309.1:n.92-12623A>T
XM_011518010.1:c.91+16435A>T XP_011516312.1:n.91+16435A>T
XM_017015042.1:c.92-12623A>T XP_016870531.1:n.92-12623A>T
XM_017015043.1:c.91+16435A>T XP_016870532.1:n.91+16435A>T
NM_004170.6:c.91+16435A>T MANE Select NP_004161.4:n.91+16435A>T
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