Canonical Allele Identifier: CA188364527
Gene: SLC1A1 HGNC NCBI

Linked Data

dbSNP Id: rs771841082
gnomAD v3: 9-4507163-G-A
gnomAD v4: 9-4507163-G-A
MyVariant Identifiers: chr9:g.4507163G>A (hg19) chr9:g.4507163G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4507163G>A , CM000671.2:g.4507163G>A GRCh38
NC_000009.11:g.4507163G>A , CM000671.1:g.4507163G>A GRCh37
NC_000009.10:g.4497163G>A NCBI36
NG_017044.1:g.21737G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262352.8:c.91+16393G>A MANE Select ENSP00000262352.3:n.91+16393G>A
ENST00000262352.7:c.91+16393G>A ENSP00000262352.3:n.91+16393G>A
NM_004170.5:c.91+16393G>A NP_004161.4:n.91+16393G>A
XM_011518007.1:c.92-12665G>A XP_011516309.1:n.92-12665G>A
XM_011518010.1:c.91+16393G>A XP_011516312.1:n.91+16393G>A
XM_017015042.1:c.92-12665G>A XP_016870531.1:n.92-12665G>A
XM_017015043.1:c.91+16393G>A XP_016870532.1:n.91+16393G>A
NM_004170.6:c.91+16393G>A MANE Select NP_004161.4:n.91+16393G>A
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