Canonical Allele Identifier: CA15953086
Gene: GARRE1 HGNC NCBI
dbSNP:
10407640
gnomAD v2:
19:34766588 G / A
gnomAD v3:
19:34275683 G / A
gnomAD v4:
chr19-34275683-G-A
Joint Max Group AF 0.81548809 (AFR)
Genomes Max Group AF 0.81548809 (AFR)
MyVariant.info:
GRCh38 chr19:g.34275683G>A
GRCh37 chr19:g.34766588G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34275683G>A , CM000681.2:g.34275683G>A GRCh38
NC_000019.9:g.34766588G>A , CM000681.1:g.34766588G>A GRCh37
NC_000019.8:g.39458428G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299505.8:c.-796+21069G>A MANE Select ENSP00000299505.4:n.-796+21069G>A
ENST00000299505.6:c.-796+21069G>A ENSP00000299505.4:n.-796+21069G>A
ENST00000585833.1:n.55-9467G>A
ENST00000588338.6:n.18+21069G>A
ENST00000588470.5:c.-337+21069G>A ENSP00000475249.1:n.-337+21069G>A
ENST00000589583.5:c.-455+21069G>A ENSP00000465362.1:n.-455+21069G>A
ENST00000592124.1:n.64+10062G>A
NM_014686.3:c.-796+21069G>A NP_055501.2:n.-796+21069G>A
XM_005259444.1:c.-796+10062G>A XP_005259501.1:n.-796+10062G>A
XM_017027525.2:c.-796+21069G>A XP_016883014.1:n.-796+21069G>A
NM_014686.4:c.-796+21069G>A NP_055501.2:n.-796+21069G>A
NM_014686.5:c.-796+21069G>A MANE Select NP_055501.2:n.-796+21069G>A
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