Canonical Allele Identifier: CA363510895

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32149388G>A (hg19) ; chr6:g.32181611G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181611G>A , CM000668.2:g.32181611G>A	GRCh38
NC_000006.11:g.32149388G>A , CM000668.1:g.32149388G>A	GRCh37
NC_000006.10:g.32257366G>A	NCBI36
NG_029868.1:g.7712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.986C>T MANE Select	ENSP00000364217.4:p.Thr329Ile
ENST00000375055.6:c.986C>T	ENSP00000364195.2:p.Thr329Ile
ENST00000375065.6:c.173C>T	ENSP00000364206.6:p.Thr58Ile
ENST00000375067.7:c.831C>T	ENSP00000364208.3:p.Asn277=
ENST00000375069.7:c.1034C>T	ENSP00000364210.4:p.Thr345Ile
ENST00000375070.7:c.662-134C>T	ENSP00000364211.4:n.662-134C>T
ENST00000375076.8:c.986C>T	ENSP00000364217.4:p.Thr329Ile
ENST00000438221.6:c.1034C>T	ENSP00000387887.2:p.Thr345Ile
ENST00000469940.5:n.25C>T
ENST00000473619.5:n.528C>T
ENST00000484849.5:n.1193C>T
ENST00000488669.5:n.528C>T
ENST00000620802.4:c.283-178C>T	ENSP00000484081.1:n.283-178C>T
NM_001136.4:c.986C>T	NP_001127.1:p.Thr329Ile
NM_001206929.1:c.1034C>T	NP_001193858.1:p.Thr345Ile
NM_001206932.1:c.944C>T	NP_001193861.1:p.Thr315Ile
NM_001206934.1:c.1034C>T	NP_001193863.1:p.Thr345Ile
NM_001206936.1:c.934C>T	NP_001193865.1:p.Leu312=
NM_001206940.1:c.986C>T	NP_001193869.1:p.Thr329Ile
NM_001206954.1:c.844C>T	NP_001193883.1:p.Leu282=
NM_001206966.1:c.986C>T	NP_001193895.1:p.Thr329Ile
NM_172197.2:c.831C>T	NP_751947.1:p.Asn277=
NR_038190.1:n.1269C>T
XM_017010328.2:c.985C>T	XP_016865817.1:p.Leu329=
XR_001743189.2:n.1050C>T
XR_001743190.2:n.1002C>T
NM_001136.5:c.986C>T MANE Select	NP_001127.1:p.Thr329Ile
NM_001206932.2:c.944C>T	NP_001193861.1:p.Thr315Ile
NM_001206936.2:c.934C>T	NP_001193865.1:p.Leu312=
NM_001206940.2:c.986C>T	NP_001193869.1:p.Thr329Ile
NM_001206954.2:c.844C>T	NP_001193883.1:p.Leu282=
NM_001206966.2:c.986C>T	NP_001193895.1:p.Thr329Ile
NM_172197.3:c.831C>T	NP_751947.1:p.Asn277=
NR_038190.2:n.1200C>T
NM_001206929.2:c.1034C>T	NP_001193858.1:p.Thr345Ile
NM_001206934.2:c.1034C>T	NP_001193863.1:p.Thr345Ile