Canonical Allele Identifier: CA1619451546
Gene: AGER HGNC NCBI

Linked Data

dbSNP Id: rs1786266221
gnomAD v4: 6-32181764-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181764C>T , CM000668.2:g.32181764C>T GRCh38
NC_000006.11:g.32149541C>T , CM000668.1:g.32149541C>T GRCh37
NC_000006.10:g.32257519C>T NCBI36
NG_029868.1:g.7559G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.965-132G>A MANE Select ENSP00000364217.4:n.965-132G>A
ENST00000375055.6:c.965-132G>A ENSP00000364195.2:n.965-132G>A
ENST00000375065.6:c.152-132G>A ENSP00000364206.6:n.152-132G>A
ENST00000375067.7:c.810-132G>A ENSP00000364208.3:n.810-132G>A
ENST00000375069.7:c.1013-132G>A ENSP00000364210.4:n.1013-132G>A
ENST00000375070.7:c.662-287G>A ENSP00000364211.4:n.662-287G>A
ENST00000375076.8:c.965-132G>A ENSP00000364217.4:n.965-132G>A
ENST00000438221.6:c.1013-132G>A ENSP00000387887.2:n.1013-132G>A
ENST00000473619.5:n.507-132G>A
ENST00000484849.5:n.1172-132G>A
ENST00000488669.5:n.507-132G>A
ENST00000620802.4:c.283-331G>A ENSP00000484081.1:n.283-331G>A
NM_001136.4:c.965-132G>A NP_001127.1:n.965-132G>A
NM_001206929.1:c.1013-132G>A NP_001193858.1:n.1013-132G>A
NM_001206932.1:c.923-132G>A NP_001193861.1:n.923-132G>A
NM_001206934.1:c.1013-132G>A NP_001193863.1:n.1013-132G>A
NM_001206936.1:c.913-132G>A NP_001193865.1:n.913-132G>A
NM_001206940.1:c.965-132G>A NP_001193869.1:n.965-132G>A
NM_001206954.1:c.823-132G>A NP_001193883.1:n.823-132G>A
NM_001206966.1:c.965-132G>A NP_001193895.1:n.965-132G>A
NM_172197.2:c.810-132G>A NP_751947.1:n.810-132G>A
NR_038190.1:n.1248-132G>A
XM_017010328.2:c.964-132G>A XP_016865817.1:n.964-132G>A
XR_001743189.2:n.1029-132G>A
XR_001743190.2:n.981-132G>A
NM_001136.5:c.965-132G>A MANE Select NP_001127.1:n.965-132G>A
NM_001206932.2:c.923-132G>A NP_001193861.1:n.923-132G>A
NM_001206936.2:c.913-132G>A NP_001193865.1:n.913-132G>A
NM_001206940.2:c.965-132G>A NP_001193869.1:n.965-132G>A
NM_001206954.2:c.823-132G>A NP_001193883.1:n.823-132G>A
NM_001206966.2:c.965-132G>A NP_001193895.1:n.965-132G>A
NM_172197.3:c.810-132G>A NP_751947.1:n.810-132G>A
NR_038190.2:n.1179-132G>A
NM_001206929.2:c.1013-132G>A NP_001193858.1:n.1013-132G>A
NM_001206934.2:c.1013-132G>A NP_001193863.1:n.1013-132G>A