Canonical Allele Identifier: CA449826565

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32150043A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182266A>G , CM000668.2:g.32182266A>G	GRCh38
NC_000006.11:g.32150043A>G , CM000668.1:g.32150043A>G	GRCh37
NC_000006.10:g.32258021A>G	NCBI36
NG_029868.1:g.7057T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.945T>C MANE Select	ENSP00000364217.4:p.Ala315=
ENST00000375055.6:c.945T>C	ENSP00000364195.2:p.Ala315=
ENST00000375065.6:c.132T>C	ENSP00000364206.6:p.Ala44=
ENST00000375067.7:c.809+273T>C	ENSP00000364208.3:n.809+273T>C
ENST00000375069.7:c.993T>C	ENSP00000364210.4:p.Ala331=
ENST00000375070.7:c.642T>C	ENSP00000364211.4:p.Ala214=
ENST00000375076.8:c.945T>C	ENSP00000364217.4:p.Ala315=
ENST00000438221.6:c.993T>C	ENSP00000387887.2:p.Ala331=
ENST00000473619.5:n.487T>C
ENST00000484849.5:n.1152T>C
ENST00000488669.5:n.487T>C
ENST00000620802.4:c.283-833T>C	ENSP00000484081.1:n.283-833T>C
NM_001136.4:c.945T>C	NP_001127.1:p.Ala315=
NM_001206929.1:c.993T>C	NP_001193858.1:p.Ala331=
NM_001206932.1:c.903T>C	NP_001193861.1:p.Ala301=
NM_001206934.1:c.993T>C	NP_001193863.1:p.Ala331=
NM_001206936.1:c.893T>C	NP_001193865.1:p.Leu298Pro
NM_001206940.1:c.945T>C	NP_001193869.1:p.Ala315=
NM_001206954.1:c.822+302T>C	NP_001193883.1:n.822+302T>C
NM_001206966.1:c.945T>C	NP_001193895.1:p.Ala315=
NM_172197.2:c.809+273T>C	NP_751947.1:n.809+273T>C
NR_038190.1:n.1228T>C
XM_017010328.2:c.963+302T>C	XP_016865817.1:n.963+302T>C
XR_001743189.2:n.1028+302T>C
XR_001743190.2:n.980+302T>C
NM_001136.5:c.945T>C MANE Select	NP_001127.1:p.Ala315=
NM_001206932.2:c.903T>C	NP_001193861.1:p.Ala301=
NM_001206936.2:c.893T>C	NP_001193865.1:p.Leu298Pro
NM_001206940.2:c.945T>C	NP_001193869.1:p.Ala315=
NM_001206954.2:c.822+302T>C	NP_001193883.1:n.822+302T>C
NM_001206966.2:c.945T>C	NP_001193895.1:p.Ala315=
NM_172197.3:c.809+273T>C	NP_751947.1:n.809+273T>C
NR_038190.2:n.1159T>C
NM_001206929.2:c.993T>C	NP_001193858.1:p.Ala331=
NM_001206934.2:c.993T>C	NP_001193863.1:p.Ala331=