Canonical Allele Identifier: CA3737916

Gene: AGER

Linked Data

• dbSNP Id: rs763261367
• ExAC: 6:32149142 G / T
• gnomAD v2: 6-32149142-G-T
• gnomAD v4: 6-32181365-G-T
• MyVariant Identifiers: chr6:g.32149142G>T (hg19) ; chr6:g.32181365G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181365G>T , CM000668.2:g.32181365G>T	GRCh38
NC_000006.11:g.32149142G>T , CM000668.1:g.32149142G>T	GRCh37
NC_000006.10:g.32257120G>T	NCBI36
NG_029868.1:g.7958C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1104C>A MANE Select	ENSP00000364217.4:p.Arg368=
ENST00000375055.6:c.*30-126C>A	ENSP00000364195.2:n.*30-126C>A
ENST00000375065.6:c.291C>A	ENSP00000364206.6:p.Arg97=
ENST00000375067.7:c.949C>A	ENSP00000364208.3:p.Pro317Thr
ENST00000375069.7:c.1152C>A	ENSP00000364210.4:p.Arg384=
ENST00000375070.7:c.774C>A	ENSP00000364211.4:p.Arg258=
ENST00000375076.8:c.1104C>A	ENSP00000364217.4:p.Arg368=
ENST00000438221.6:c.*30-126C>A	ENSP00000387887.2:n.*30-126C>A
ENST00000469940.5:n.271C>A
ENST00000473619.5:n.646C>A
ENST00000484849.5:n.1311C>A
ENST00000488669.5:n.616-126C>A
ENST00000620802.4:c.351C>A	ENSP00000484081.1:p.Arg117=
NM_001136.4:c.1104C>A	NP_001127.1:p.Arg368=
NM_001206929.1:c.1152C>A	NP_001193858.1:p.Arg384=
NM_001206932.1:c.1062C>A	NP_001193861.1:p.Arg354=
NM_001206934.1:c.*30-126C>A	NP_001193863.1:n.*30-126C>A
NM_001206936.1:c.1022-126C>A	NP_001193865.1:n.1022-126C>A
NM_001206940.1:c.*30-126C>A	NP_001193869.1:n.*30-126C>A
NM_001206954.1:c.932-126C>A	NP_001193883.1:n.932-126C>A
NM_001206966.1:c.*29+159C>A	NP_001193895.1:n.*29+159C>A
NM_172197.2:c.949C>A	NP_751947.1:p.Pro317Thr
NR_038190.1:n.1387C>A
XM_017010328.2:c.1073-126C>A	XP_016865817.1:n.1073-126C>A
XR_001743189.2:n.1168C>A
XR_001743190.2:n.1120C>A
NM_001136.5:c.1104C>A MANE Select	NP_001127.1:p.Arg368=
NM_001206932.2:c.1062C>A	NP_001193861.1:p.Arg354=
NM_001206936.2:c.1022-126C>A	NP_001193865.1:n.1022-126C>A
NM_001206940.2:c.*30-126C>A	NP_001193869.1:n.*30-126C>A
NM_001206954.2:c.932-126C>A	NP_001193883.1:n.932-126C>A
NM_001206966.2:c.*29+159C>A	NP_001193895.1:n.*29+159C>A
NM_172197.3:c.949C>A	NP_751947.1:p.Pro317Thr
NR_038190.2:n.1318C>A
NM_001206929.2:c.1152C>A	NP_001193858.1:p.Arg384=
NM_001206934.2:c.*30-126C>A	NP_001193863.1:n.*30-126C>A