Canonical Allele Identifier: CA1962912
Gene: GAD1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.170852781G>T
GRCh37 chr2:g.171709291G>T
Revel Score:
ENST00000358196 (MANE Select) 0.261
gnomAD v2:
2:171709291 G / T
gnomAD v3:
2:170852781 G / T
gnomAD v4:
chr2-170852781-G-T
Joint Max Group AF 0.0032822 (MID)
Genomes Max Group AF 0.00283858 (AMR)
Exomes Max Group AF 0.00344933 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.170852781G>T , CM000664.2:g.170852781G>T GRCh38
NC_000002.11:g.171709291G>T , CM000664.1:g.171709291G>T GRCh37
NC_000002.10:g.171417537G>T NCBI36
NG_021477.1:g.41092G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358196.8:c.1252G>T MANE Select ENSP00000350928.3:p.Val418Phe
ENST00000358196.7:c.1252G>T ENSP00000350928.3:p.Val418Phe
ENST00000414527.6:c.*437G>T ENSP00000403849.1:n.*437G>T
ENST00000478562.1:n.294G>T
ENST00000488724.5:n.352G>T
ENST00000493875.5:c.*86G>T ENSP00000434696.1:n.*86G>T
ENST00000625689.2:c.*86G>T ENSP00000486612.1:n.*86G>T
NM_000817.2:c.1252G>T NP_000808.2:p.Val418Phe
XM_011510922.1:c.1252G>T XP_011509224.1:p.Val418Phe
XM_017003756.1:c.1252G>T XP_016859245.1:p.Val418Phe
XM_024452783.1:c.484G>T XP_024308551.1:p.Val162Phe
NM_000817.3:c.1252G>T MANE Select NP_000808.2:p.Val418Phe
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