Canonical Allele Identifier: CA363510037

Gene: AGER

Linked Data

• dbSNP Id: rs145090083
• gnomAD v2: 6-32149183-C-G
• gnomAD v3: 6-32181406-C-G
• gnomAD v4: 6-32181406-C-G
• MyVariant Identifiers: chr6:g.32149183C>G (hg19) ; chr6:g.32181406C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181406C>G , CM000668.2:g.32181406C>G	GRCh38
NC_000006.11:g.32149183C>G , CM000668.1:g.32149183C>G	GRCh37
NC_000006.10:g.32257161C>G	NCBI36
NG_029868.1:g.7917G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1063G>C MANE Select	ENSP00000364217.4:p.Ala355Pro
ENST00000375055.6:c.*29+118G>C	ENSP00000364195.2:n.*29+118G>C
ENST00000375065.6:c.250G>C	ENSP00000364206.6:p.Ala84Pro
ENST00000375067.7:c.908G>C	ENSP00000364208.3:p.Arg303Pro
ENST00000375069.7:c.1111G>C	ENSP00000364210.4:p.Ala371Pro
ENST00000375070.7:c.733G>C	ENSP00000364211.4:p.Ala245Pro
ENST00000375076.8:c.1063G>C	ENSP00000364217.4:p.Ala355Pro
ENST00000438221.6:c.*29+118G>C	ENSP00000387887.2:n.*29+118G>C
ENST00000469940.5:n.230G>C
ENST00000473619.5:n.605G>C
ENST00000484849.5:n.1270G>C
ENST00000488669.5:n.615+118G>C
ENST00000620802.4:c.310G>C	ENSP00000484081.1:p.Ala104Pro
NM_001136.4:c.1063G>C	NP_001127.1:p.Ala355Pro
NM_001206929.1:c.1111G>C	NP_001193858.1:p.Ala371Pro
NM_001206932.1:c.1021G>C	NP_001193861.1:p.Ala341Pro
NM_001206934.1:c.*29+118G>C	NP_001193863.1:n.*29+118G>C
NM_001206936.1:c.1021+118G>C	NP_001193865.1:n.1021+118G>C
NM_001206940.1:c.*29+118G>C	NP_001193869.1:n.*29+118G>C
NM_001206954.1:c.931+118G>C	NP_001193883.1:n.931+118G>C
NM_001206966.1:c.*29+118G>C	NP_001193895.1:n.*29+118G>C
NM_172197.2:c.908G>C	NP_751947.1:p.Arg303Pro
NR_038190.1:n.1346G>C
XM_017010328.2:c.1072+118G>C	XP_016865817.1:n.1072+118G>C
XR_001743189.2:n.1127G>C
XR_001743190.2:n.1079G>C
NM_001136.5:c.1063G>C MANE Select	NP_001127.1:p.Ala355Pro
NM_001206932.2:c.1021G>C	NP_001193861.1:p.Ala341Pro
NM_001206936.2:c.1021+118G>C	NP_001193865.1:n.1021+118G>C
NM_001206940.2:c.*29+118G>C	NP_001193869.1:n.*29+118G>C
NM_001206954.2:c.931+118G>C	NP_001193883.1:n.931+118G>C
NM_001206966.2:c.*29+118G>C	NP_001193895.1:n.*29+118G>C
NM_172197.3:c.908G>C	NP_751947.1:p.Arg303Pro
NR_038190.2:n.1277G>C
NM_001206929.2:c.1111G>C	NP_001193858.1:p.Ala371Pro
NM_001206934.2:c.*29+118G>C	NP_001193863.1:n.*29+118G>C