Canonical Allele Identifier: CA363511028

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32149406G>A (hg19) ; chr6:g.32181629G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181629G>A , CM000668.2:g.32181629G>A	GRCh38
NC_000006.11:g.32149406G>A , CM000668.1:g.32149406G>A	GRCh37
NC_000006.10:g.32257384G>A	NCBI36
NG_029868.1:g.7694C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.968C>T MANE Select	ENSP00000364217.4:p.Pro323Leu
ENST00000375055.6:c.968C>T	ENSP00000364195.2:p.Pro323Leu
ENST00000375065.6:c.155C>T	ENSP00000364206.6:p.Pro52Leu
ENST00000375067.7:c.813C>T	ENSP00000364208.3:p.Thr271=
ENST00000375069.7:c.1016C>T	ENSP00000364210.4:p.Pro339Leu
ENST00000375070.7:c.662-152C>T	ENSP00000364211.4:n.662-152C>T
ENST00000375076.8:c.968C>T	ENSP00000364217.4:p.Pro323Leu
ENST00000438221.6:c.1016C>T	ENSP00000387887.2:p.Pro339Leu
ENST00000469940.5:n.7C>T
ENST00000473619.5:n.510C>T
ENST00000484849.5:n.1175C>T
ENST00000488669.5:n.510C>T
ENST00000620802.4:c.283-196C>T	ENSP00000484081.1:n.283-196C>T
NM_001136.4:c.968C>T	NP_001127.1:p.Pro323Leu
NM_001206929.1:c.1016C>T	NP_001193858.1:p.Pro339Leu
NM_001206932.1:c.926C>T	NP_001193861.1:p.Pro309Leu
NM_001206934.1:c.1016C>T	NP_001193863.1:p.Pro339Leu
NM_001206936.1:c.916C>T	NP_001193865.1:p.Gln306Ter
NM_001206940.1:c.968C>T	NP_001193869.1:p.Pro323Leu
NM_001206954.1:c.826C>T	NP_001193883.1:p.Gln276Ter
NM_001206966.1:c.968C>T	NP_001193895.1:p.Pro323Leu
NM_172197.2:c.813C>T	NP_751947.1:p.Thr271=
NR_038190.1:n.1251C>T
XM_017010328.2:c.967C>T	XP_016865817.1:p.Gln323Ter
XR_001743189.2:n.1032C>T
XR_001743190.2:n.984C>T
NM_001136.5:c.968C>T MANE Select	NP_001127.1:p.Pro323Leu
NM_001206932.2:c.926C>T	NP_001193861.1:p.Pro309Leu
NM_001206936.2:c.916C>T	NP_001193865.1:p.Gln306Ter
NM_001206940.2:c.968C>T	NP_001193869.1:p.Pro323Leu
NM_001206954.2:c.826C>T	NP_001193883.1:p.Gln276Ter
NM_001206966.2:c.968C>T	NP_001193895.1:p.Pro323Leu
NM_172197.3:c.813C>T	NP_751947.1:p.Thr271=
NR_038190.2:n.1182C>T
NM_001206929.2:c.1016C>T	NP_001193858.1:p.Pro339Leu
NM_001206934.2:c.1016C>T	NP_001193863.1:p.Pro339Leu