Canonical Allele Identifier: CA1619451618
Gene: AGER HGNC NCBI

Linked Data

dbSNP Id: rs1786285518

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181887C>G , CM000668.2:g.32181887C>G GRCh38
NC_000006.11:g.32149664C>G , CM000668.1:g.32149664C>G GRCh37
NC_000006.10:g.32257642C>G NCBI36
NG_029868.1:g.7436G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375076.9:c.965-255G>C MANE Select ENSP00000364217.4:n.965-255G>C
ENST00000375055.6:c.965-255G>C ENSP00000364195.2:n.965-255G>C
ENST00000375065.6:c.152-255G>C ENSP00000364206.6:n.152-255G>C
ENST00000375067.7:c.810-255G>C ENSP00000364208.3:n.810-255G>C
ENST00000375069.7:c.1013-255G>C ENSP00000364210.4:n.1013-255G>C
ENST00000375070.7:c.661+360G>C ENSP00000364211.4:n.661+360G>C
ENST00000375076.8:c.965-255G>C ENSP00000364217.4:n.965-255G>C
ENST00000438221.6:c.1013-255G>C ENSP00000387887.2:n.1013-255G>C
ENST00000473619.5:n.507-255G>C
ENST00000484849.5:n.1172-255G>C
ENST00000488669.5:n.507-255G>C
ENST00000620802.4:c.283-454G>C ENSP00000484081.1:n.283-454G>C
NM_001136.4:c.965-255G>C NP_001127.1:n.965-255G>C
NM_001206929.1:c.1013-255G>C NP_001193858.1:n.1013-255G>C
NM_001206932.1:c.923-255G>C NP_001193861.1:n.923-255G>C
NM_001206934.1:c.1013-255G>C NP_001193863.1:n.1013-255G>C
NM_001206936.1:c.913-255G>C NP_001193865.1:n.913-255G>C
NM_001206940.1:c.965-255G>C NP_001193869.1:n.965-255G>C
NM_001206954.1:c.823-255G>C NP_001193883.1:n.823-255G>C
NM_001206966.1:c.965-255G>C NP_001193895.1:n.965-255G>C
NM_172197.2:c.810-255G>C NP_751947.1:n.810-255G>C
NR_038190.1:n.1248-255G>C
XM_017010328.2:c.964-255G>C XP_016865817.1:n.964-255G>C
XR_001743189.2:n.1029-255G>C
XR_001743190.2:n.981-255G>C
NM_001136.5:c.965-255G>C MANE Select NP_001127.1:n.965-255G>C
NM_001206932.2:c.923-255G>C NP_001193861.1:n.923-255G>C
NM_001206936.2:c.913-255G>C NP_001193865.1:n.913-255G>C
NM_001206940.2:c.965-255G>C NP_001193869.1:n.965-255G>C
NM_001206954.2:c.823-255G>C NP_001193883.1:n.823-255G>C
NM_001206966.2:c.965-255G>C NP_001193895.1:n.965-255G>C
NM_172197.3:c.810-255G>C NP_751947.1:n.810-255G>C
NR_038190.2:n.1179-255G>C
NM_001206929.2:c.1013-255G>C NP_001193858.1:n.1013-255G>C
NM_001206934.2:c.1013-255G>C NP_001193863.1:n.1013-255G>C