Canonical Allele Identifier: CA823939144
Gene: AGER HGNC NCBI

Linked Data

dbSNP Id: rs1437313045

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32183458G>A , CM000668.2:g.32183458G>A GRCh38
NC_000006.11:g.32151235G>A , CM000668.1:g.32151235G>A GRCh37
NC_000006.10:g.32259213G>A NCBI36
NG_029868.1:g.5865C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375076.9:c.356-70C>T MANE Select ENSP00000364217.4:n.356-70C>T
ENST00000375055.6:c.356-70C>T ENSP00000364195.2:n.356-70C>T
ENST00000375056.6:c.356-70C>T ENSP00000364196.2:n.356-70C>T
ENST00000375065.6:c.-182+500C>T ENSP00000364206.6:n.-182+500C>T
ENST00000375067.7:c.314-70C>T ENSP00000364208.3:n.314-70C>T
ENST00000375069.7:c.356-70C>T ENSP00000364210.4:n.356-70C>T
ENST00000375070.7:c.53-70C>T ENSP00000364211.4:n.53-70C>T
ENST00000375076.8:c.356-70C>T ENSP00000364217.4:n.356-70C>T
ENST00000438221.6:c.356-70C>T ENSP00000387887.2:n.356-70C>T
ENST00000450110.5:c.343-18C>T ENSP00000398466.1:n.343-18C>T
ENST00000484849.5:n.563-70C>T
ENST00000538695.2:c.356-18C>T ENSP00000445389.1:n.356-18C>T
ENST00000620802.4:c.282+170C>T ENSP00000484081.1:n.282+170C>T
NM_001136.4:c.356-70C>T NP_001127.1:n.356-70C>T
NM_001206929.1:c.356-70C>T NP_001193858.1:n.356-70C>T
NM_001206932.1:c.314-70C>T NP_001193861.1:n.314-70C>T
NM_001206934.1:c.356-70C>T NP_001193863.1:n.356-70C>T
NM_001206936.1:c.356-70C>T NP_001193865.1:n.356-70C>T
NM_001206940.1:c.356-70C>T NP_001193869.1:n.356-70C>T
NM_001206954.1:c.356-70C>T NP_001193883.1:n.356-70C>T
NM_001206966.1:c.356-70C>T NP_001193895.1:n.356-70C>T
NM_172197.2:c.314-70C>T NP_751947.1:n.314-70C>T
NR_038190.1:n.639-70C>T
XM_017010328.2:c.449-70C>T XP_016865817.1:n.449-70C>T
XR_001743189.2:n.514-70C>T
XR_001743190.2:n.514-70C>T
NM_001136.5:c.356-70C>T MANE Select NP_001127.1:n.356-70C>T
NM_001206932.2:c.314-70C>T NP_001193861.1:n.314-70C>T
NM_001206936.2:c.356-70C>T NP_001193865.1:n.356-70C>T
NM_001206940.2:c.356-70C>T NP_001193869.1:n.356-70C>T
NM_001206954.2:c.356-70C>T NP_001193883.1:n.356-70C>T
NM_001206966.2:c.356-70C>T NP_001193895.1:n.356-70C>T
NM_172197.3:c.314-70C>T NP_751947.1:n.314-70C>T
NR_038190.2:n.570-70C>T
NM_001206929.2:c.356-70C>T NP_001193858.1:n.356-70C>T
NM_001206934.2:c.356-70C>T NP_001193863.1:n.356-70C>T