Canonical Allele Identifier: CA363509812

Gene: AGER

Linked Data

• dbSNP Id: rs373730068
• gnomAD v2: 6-32149143-C-A
• MyVariant Identifiers: chr6:g.32149143C>A (hg19) ; chr6:g.32181366C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181366C>A , CM000668.2:g.32181366C>A	GRCh38
NC_000006.11:g.32149143C>A , CM000668.1:g.32149143C>A	GRCh37
NC_000006.10:g.32257121C>A	NCBI36
NG_029868.1:g.7957G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1103G>T MANE Select	ENSP00000364217.4:p.Arg368Leu
ENST00000375055.6:c.*30-127G>T	ENSP00000364195.2:n.*30-127G>T
ENST00000375065.6:c.290G>T	ENSP00000364206.6:p.Arg97Leu
ENST00000375067.7:c.948G>T	ENSP00000364208.3:p.Thr316=
ENST00000375069.7:c.1151G>T	ENSP00000364210.4:p.Arg384Leu
ENST00000375070.7:c.773G>T	ENSP00000364211.4:p.Arg258Leu
ENST00000375076.8:c.1103G>T	ENSP00000364217.4:p.Arg368Leu
ENST00000438221.6:c.*30-127G>T	ENSP00000387887.2:n.*30-127G>T
ENST00000469940.5:n.270G>T
ENST00000473619.5:n.645G>T
ENST00000484849.5:n.1310G>T
ENST00000488669.5:n.616-127G>T
ENST00000620802.4:c.350G>T	ENSP00000484081.1:p.Arg117Leu
NM_001136.4:c.1103G>T	NP_001127.1:p.Arg368Leu
NM_001206929.1:c.1151G>T	NP_001193858.1:p.Arg384Leu
NM_001206932.1:c.1061G>T	NP_001193861.1:p.Arg354Leu
NM_001206934.1:c.*30-127G>T	NP_001193863.1:n.*30-127G>T
NM_001206936.1:c.1022-127G>T	NP_001193865.1:n.1022-127G>T
NM_001206940.1:c.*30-127G>T	NP_001193869.1:n.*30-127G>T
NM_001206954.1:c.932-127G>T	NP_001193883.1:n.932-127G>T
NM_001206966.1:c.*29+158G>T	NP_001193895.1:n.*29+158G>T
NM_172197.2:c.948G>T	NP_751947.1:p.Thr316=
NR_038190.1:n.1386G>T
XM_017010328.2:c.1073-127G>T	XP_016865817.1:n.1073-127G>T
XR_001743189.2:n.1167G>T
XR_001743190.2:n.1119G>T
NM_001136.5:c.1103G>T MANE Select	NP_001127.1:p.Arg368Leu
NM_001206932.2:c.1061G>T	NP_001193861.1:p.Arg354Leu
NM_001206936.2:c.1022-127G>T	NP_001193865.1:n.1022-127G>T
NM_001206940.2:c.*30-127G>T	NP_001193869.1:n.*30-127G>T
NM_001206954.2:c.932-127G>T	NP_001193883.1:n.932-127G>T
NM_001206966.2:c.*29+158G>T	NP_001193895.1:n.*29+158G>T
NM_172197.3:c.948G>T	NP_751947.1:p.Thr316=
NR_038190.2:n.1317G>T
NM_001206929.2:c.1151G>T	NP_001193858.1:p.Arg384Leu
NM_001206934.2:c.*30-127G>T	NP_001193863.1:n.*30-127G>T