Canonical Allele Identifier: CA449827032
Gene: AGER HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32151393C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32183616C>G , CM000668.2:g.32183616C>G GRCh38
NC_000006.11:g.32151393C>G , CM000668.1:g.32151393C>G GRCh37
NC_000006.10:g.32259371C>G NCBI36
NG_029868.1:g.5707G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.294G>C MANE Select ENSP00000364217.4:p.Arg98=
ENST00000375055.6:c.294G>C ENSP00000364195.2:p.Arg98=
ENST00000375056.6:c.294G>C ENSP00000364196.2:p.Arg98=
ENST00000375065.6:c.-182+342G>C ENSP00000364206.6:n.-182+342G>C
ENST00000375067.7:c.252G>C ENSP00000364208.3:p.Arg84=
ENST00000375069.7:c.294G>C ENSP00000364210.4:p.Arg98=
ENST00000375070.7:c.-10G>C ENSP00000364211.4:n.-10G>C
ENST00000375076.8:c.294G>C ENSP00000364217.4:p.Arg98=
ENST00000438221.6:c.294G>C ENSP00000387887.2:p.Arg98=
ENST00000450110.5:c.294G>C ENSP00000398466.1:p.Arg98=
ENST00000484849.5:n.501G>C
ENST00000538695.2:c.294G>C ENSP00000445389.1:p.Arg98=
ENST00000620802.4:c.282+12G>C ENSP00000484081.1:n.282+12G>C
NM_001136.4:c.294G>C NP_001127.1:p.Arg98=
NM_001206929.1:c.294G>C NP_001193858.1:p.Arg98=
NM_001206932.1:c.252G>C NP_001193861.1:p.Arg84=
NM_001206934.1:c.294G>C NP_001193863.1:p.Arg98=
NM_001206936.1:c.294G>C NP_001193865.1:p.Arg98=
NM_001206940.1:c.294G>C NP_001193869.1:p.Arg98=
NM_001206954.1:c.294G>C NP_001193883.1:p.Arg98=
NM_001206966.1:c.294G>C NP_001193895.1:p.Arg98=
NM_172197.2:c.252G>C NP_751947.1:p.Arg84=
NR_038190.1:n.577G>C
XM_017010328.2:c.387G>C XP_016865817.1:p.Arg129=
XR_001743189.2:n.452G>C
XR_001743190.2:n.452G>C
NM_001136.5:c.294G>C MANE Select NP_001127.1:p.Arg98=
NM_001206932.2:c.252G>C NP_001193861.1:p.Arg84=
NM_001206936.2:c.294G>C NP_001193865.1:p.Arg98=
NM_001206940.2:c.294G>C NP_001193869.1:p.Arg98=
NM_001206954.2:c.294G>C NP_001193883.1:p.Arg98=
NM_001206966.2:c.294G>C NP_001193895.1:p.Arg98=
NM_172197.3:c.252G>C NP_751947.1:p.Arg84=
NR_038190.2:n.508G>C
NM_001206929.2:c.294G>C NP_001193858.1:p.Arg98=
NM_001206934.2:c.294G>C NP_001193863.1:p.Arg98=