Canonical Allele Identifier: CA363510930

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32149391G>A (hg19) ; chr6:g.32181614G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181614G>A , CM000668.2:g.32181614G>A	GRCh38
NC_000006.11:g.32149391G>A , CM000668.1:g.32149391G>A	GRCh37
NC_000006.10:g.32257369G>A	NCBI36
NG_029868.1:g.7709C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.983C>T MANE Select	ENSP00000364217.4:p.Pro328Leu
ENST00000375055.6:c.983C>T	ENSP00000364195.2:p.Pro328Leu
ENST00000375065.6:c.170C>T	ENSP00000364206.6:p.Pro57Leu
ENST00000375067.7:c.828C>T	ENSP00000364208.3:p.Ala276=
ENST00000375069.7:c.1031C>T	ENSP00000364210.4:p.Pro344Leu
ENST00000375070.7:c.662-137C>T	ENSP00000364211.4:n.662-137C>T
ENST00000375076.8:c.983C>T	ENSP00000364217.4:p.Pro328Leu
ENST00000438221.6:c.1031C>T	ENSP00000387887.2:p.Pro344Leu
ENST00000469940.5:n.22C>T
ENST00000473619.5:n.525C>T
ENST00000484849.5:n.1190C>T
ENST00000488669.5:n.525C>T
ENST00000620802.4:c.283-181C>T	ENSP00000484081.1:n.283-181C>T
NM_001136.4:c.983C>T	NP_001127.1:p.Pro328Leu
NM_001206929.1:c.1031C>T	NP_001193858.1:p.Pro344Leu
NM_001206932.1:c.941C>T	NP_001193861.1:p.Pro314Leu
NM_001206934.1:c.1031C>T	NP_001193863.1:p.Pro344Leu
NM_001206936.1:c.931C>T	NP_001193865.1:p.Gln311Ter
NM_001206940.1:c.983C>T	NP_001193869.1:p.Pro328Leu
NM_001206954.1:c.841C>T	NP_001193883.1:p.Gln281Ter
NM_001206966.1:c.983C>T	NP_001193895.1:p.Pro328Leu
NM_172197.2:c.828C>T	NP_751947.1:p.Ala276=
NR_038190.1:n.1266C>T
XM_017010328.2:c.982C>T	XP_016865817.1:p.Gln328Ter
XR_001743189.2:n.1047C>T
XR_001743190.2:n.999C>T
NM_001136.5:c.983C>T MANE Select	NP_001127.1:p.Pro328Leu
NM_001206932.2:c.941C>T	NP_001193861.1:p.Pro314Leu
NM_001206936.2:c.931C>T	NP_001193865.1:p.Gln311Ter
NM_001206940.2:c.983C>T	NP_001193869.1:p.Pro328Leu
NM_001206954.2:c.841C>T	NP_001193883.1:p.Gln281Ter
NM_001206966.2:c.983C>T	NP_001193895.1:p.Pro328Leu
NM_172197.3:c.828C>T	NP_751947.1:p.Ala276=
NR_038190.2:n.1197C>T
NM_001206929.2:c.1031C>T	NP_001193858.1:p.Pro344Leu
NM_001206934.2:c.1031C>T	NP_001193863.1:p.Pro344Leu