Canonical Allele Identifier: CA14272264
Gene: GSE1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.85672958G>A
GRCh37 chr16:g.85706564G>A
gnomAD v2:
16:85706564 G / A
gnomAD v3:
16:85672958 G / A
gnomAD v4:
chr16-85672958-G-A
Joint Max Group AF 0.27278364 (NFE)
Genomes Max Group AF 0.27232734 (NFE)
Exomes Max Group AF 0.28085412 (NFE)
dbSNP:
709805
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.85672958G>A , CM000678.2:g.85672958G>A GRCh38
NC_000016.9:g.85706564G>A , CM000678.1:g.85706564G>A GRCh37
NC_000016.8:g.84264065G>A NCBI36
NG_054715.1:g.508447G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253458.12:c.*419G>A MANE Select ENSP00000253458.6:n.*419G>A
ENST00000253458.11:c.*419G>A ENSP00000253458.6:n.*419G>A
ENST00000393243.5:c.*419G>A ENSP00000376934.1:n.*419G>A
ENST00000405402.6:c.*419G>A ENSP00000384839.2:n.*419G>A
ENST00000412692.5:c.3379G>A
ENST00000469381.1:n.2639G>A
NM_001134473.2:c.*419G>A NP_001127945.1:n.*419G>A
NM_001278184.1:c.*419G>A NP_001265113.1:n.*419G>A
NM_014615.3:c.*419G>A NP_055430.1:n.*419G>A
XM_005255859.3:c.*419G>A XP_005255916.2:n.*419G>A
XM_005255860.2:c.*419G>A XP_005255917.2:n.*419G>A
XM_005255861.3:c.*419G>A XP_005255918.2:n.*419G>A
XM_005255862.2:c.*419G>A XP_005255919.2:n.*419G>A
XM_005255863.3:c.*419G>A XP_005255920.1:n.*419G>A
XM_005255864.3:c.*419G>A XP_005255921.1:n.*419G>A
XM_005255865.3:c.*419G>A XP_005255922.1:n.*419G>A
XM_011522965.1:c.*419G>A XP_011521267.1:n.*419G>A
XM_011522966.1:c.*419G>A XP_011521268.1:n.*419G>A
XM_011522967.1:c.*419G>A XP_011521269.1:n.*419G>A
NM_001278184.2:c.*419G>A NP_001265113.1:n.*419G>A
NM_014615.4:c.*419G>A NP_055430.1:n.*419G>A
XM_005255859.5:c.*419G>A XP_005255916.3:n.*419G>A
XM_005255860.3:c.*419G>A XP_005255917.3:n.*419G>A
XM_005255861.5:c.*419G>A XP_005255918.3:n.*419G>A
XM_005255863.4:c.*419G>A XP_005255920.1:n.*419G>A
XM_005255864.4:c.*419G>A XP_005255921.1:n.*419G>A
XM_005255865.4:c.*419G>A XP_005255922.1:n.*419G>A
XM_011522965.3:c.*419G>A XP_011521267.1:n.*419G>A
XM_011522966.3:c.*419G>A XP_011521268.1:n.*419G>A
XM_017023083.1:c.*419G>A XP_016878572.1:n.*419G>A
NM_014615.5:c.*419G>A MANE Select NP_055430.1:n.*419G>A
NM_001134473.3:c.*419G>A NP_001127945.1:n.*419G>A
NM_001278184.3:c.*419G>A NP_001265113.1:n.*419G>A
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