Canonical Allele Identifier: CA2678121285

Gene: AGER

Linked Data

• gnomAD v4: 6-32183450-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32183450G>T , CM000668.2:g.32183450G>T	GRCh38
NC_000006.11:g.32151227G>T , CM000668.1:g.32151227G>T	GRCh37
NC_000006.10:g.32259205G>T	NCBI36
NG_029868.1:g.5873C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375076.9:c.356-62C>A MANE Select	ENSP00000364217.4:n.356-62C>A
ENST00000375055.6:c.356-62C>A	ENSP00000364195.2:n.356-62C>A
ENST00000375056.6:c.356-62C>A	ENSP00000364196.2:n.356-62C>A
ENST00000375065.6:c.-182+508C>A	ENSP00000364206.6:n.-182+508C>A
ENST00000375067.7:c.314-62C>A	ENSP00000364208.3:n.314-62C>A
ENST00000375069.7:c.356-62C>A	ENSP00000364210.4:n.356-62C>A
ENST00000375070.7:c.53-62C>A	ENSP00000364211.4:n.53-62C>A
ENST00000375076.8:c.356-62C>A	ENSP00000364217.4:n.356-62C>A
ENST00000438221.6:c.356-62C>A	ENSP00000387887.2:n.356-62C>A
ENST00000450110.5:c.343-10C>A	ENSP00000398466.1:n.343-10C>A
ENST00000484849.5:n.563-62C>A
ENST00000538695.2:c.356-10C>A	ENSP00000445389.1:n.356-10C>A
ENST00000620802.4:c.282+178C>A	ENSP00000484081.1:n.282+178C>A
NM_001136.4:c.356-62C>A	NP_001127.1:n.356-62C>A
NM_001206929.1:c.356-62C>A	NP_001193858.1:n.356-62C>A
NM_001206932.1:c.314-62C>A	NP_001193861.1:n.314-62C>A
NM_001206934.1:c.356-62C>A	NP_001193863.1:n.356-62C>A
NM_001206936.1:c.356-62C>A	NP_001193865.1:n.356-62C>A
NM_001206940.1:c.356-62C>A	NP_001193869.1:n.356-62C>A
NM_001206954.1:c.356-62C>A	NP_001193883.1:n.356-62C>A
NM_001206966.1:c.356-62C>A	NP_001193895.1:n.356-62C>A
NM_172197.2:c.314-62C>A	NP_751947.1:n.314-62C>A
NR_038190.1:n.639-62C>A
XM_017010328.2:c.449-62C>A	XP_016865817.1:n.449-62C>A
XR_001743189.2:n.514-62C>A
XR_001743190.2:n.514-62C>A
NM_001136.5:c.356-62C>A MANE Select	NP_001127.1:n.356-62C>A
NM_001206932.2:c.314-62C>A	NP_001193861.1:n.314-62C>A
NM_001206936.2:c.356-62C>A	NP_001193865.1:n.356-62C>A
NM_001206940.2:c.356-62C>A	NP_001193869.1:n.356-62C>A
NM_001206954.2:c.356-62C>A	NP_001193883.1:n.356-62C>A
NM_001206966.2:c.356-62C>A	NP_001193895.1:n.356-62C>A
NM_172197.3:c.314-62C>A	NP_751947.1:n.314-62C>A
NR_038190.2:n.570-62C>A
NM_001206929.2:c.356-62C>A	NP_001193858.1:n.356-62C>A
NM_001206934.2:c.356-62C>A	NP_001193863.1:n.356-62C>A