Canonical Allele Identifier: CA3737938

Gene: AGER

Linked Data

• ClinVar Variation Id: 735622
• ClinVar RCV Id: RCV000911191
• dbSNP Id: rs143357175
• ExAC: 6:32149219 G / A
• gnomAD v2: 6-32149219-G-A
• gnomAD v3: 6-32181442-G-A
• gnomAD v4: 6-32181442-G-A
• MyVariant Identifiers: chr6:g.32149219G>A (hg19) ; chr6:g.32181442G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181442G>A , CM000668.2:g.32181442G>A	GRCh38
NC_000006.11:g.32149219G>A , CM000668.1:g.32149219G>A	GRCh37
NC_000006.10:g.32257197G>A	NCBI36
NG_029868.1:g.7881C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1027C>T MANE Select	ENSP00000364217.4:p.Leu343=
ENST00000375055.6:c.*29+82C>T	ENSP00000364195.2:n.*29+82C>T
ENST00000375065.6:c.214C>T	ENSP00000364206.6:p.Leu72=
ENST00000375067.7:c.872C>T	ENSP00000364208.3:p.Pro291Leu
ENST00000375069.7:c.1075C>T	ENSP00000364210.4:p.Leu359=
ENST00000375070.7:c.697C>T	ENSP00000364211.4:p.Leu233=
ENST00000375076.8:c.1027C>T	ENSP00000364217.4:p.Leu343=
ENST00000438221.6:c.*29+82C>T	ENSP00000387887.2:n.*29+82C>T
ENST00000469940.5:n.194C>T
ENST00000473619.5:n.569C>T
ENST00000484849.5:n.1234C>T
ENST00000488669.5:n.615+82C>T
ENST00000620802.4:c.283-9C>T	ENSP00000484081.1:n.283-9C>T
NM_001136.4:c.1027C>T	NP_001127.1:p.Leu343=
NM_001206929.1:c.1075C>T	NP_001193858.1:p.Leu359=
NM_001206932.1:c.985C>T	NP_001193861.1:p.Leu329=
NM_001206934.1:c.*29+82C>T	NP_001193863.1:n.*29+82C>T
NM_001206936.1:c.1021+82C>T	NP_001193865.1:n.1021+82C>T
NM_001206940.1:c.*29+82C>T	NP_001193869.1:n.*29+82C>T
NM_001206954.1:c.931+82C>T	NP_001193883.1:n.931+82C>T
NM_001206966.1:c.*29+82C>T	NP_001193895.1:n.*29+82C>T
NM_172197.2:c.872C>T	NP_751947.1:p.Pro291Leu
NR_038190.1:n.1310C>T
XM_017010328.2:c.1072+82C>T	XP_016865817.1:n.1072+82C>T
XR_001743189.2:n.1091C>T
XR_001743190.2:n.1043C>T
NM_001136.5:c.1027C>T MANE Select	NP_001127.1:p.Leu343=
NM_001206932.2:c.985C>T	NP_001193861.1:p.Leu329=
NM_001206936.2:c.1021+82C>T	NP_001193865.1:n.1021+82C>T
NM_001206940.2:c.*29+82C>T	NP_001193869.1:n.*29+82C>T
NM_001206954.2:c.931+82C>T	NP_001193883.1:n.931+82C>T
NM_001206966.2:c.*29+82C>T	NP_001193895.1:n.*29+82C>T
NM_172197.3:c.872C>T	NP_751947.1:p.Pro291Leu
NR_038190.2:n.1241C>T
NM_001206929.2:c.1075C>T	NP_001193858.1:p.Leu359=
NM_001206934.2:c.*29+82C>T	NP_001193863.1:n.*29+82C>T