Canonical Allele Identifier: CA2678121289

Gene: AGER

Linked Data

• gnomAD v4: 6-32183459-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32183459C>G , CM000668.2:g.32183459C>G	GRCh38
NC_000006.11:g.32151236C>G , CM000668.1:g.32151236C>G	GRCh37
NC_000006.10:g.32259214C>G	NCBI36
NG_029868.1:g.5864G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375076.9:c.356-71G>C MANE Select	ENSP00000364217.4:n.356-71G>C
ENST00000375055.6:c.356-71G>C	ENSP00000364195.2:n.356-71G>C
ENST00000375056.6:c.356-71G>C	ENSP00000364196.2:n.356-71G>C
ENST00000375065.6:c.-182+499G>C	ENSP00000364206.6:n.-182+499G>C
ENST00000375067.7:c.314-71G>C	ENSP00000364208.3:n.314-71G>C
ENST00000375069.7:c.356-71G>C	ENSP00000364210.4:n.356-71G>C
ENST00000375070.7:c.53-71G>C	ENSP00000364211.4:n.53-71G>C
ENST00000375076.8:c.356-71G>C	ENSP00000364217.4:n.356-71G>C
ENST00000438221.6:c.356-71G>C	ENSP00000387887.2:n.356-71G>C
ENST00000450110.5:c.343-19G>C	ENSP00000398466.1:n.343-19G>C
ENST00000484849.5:n.563-71G>C
ENST00000538695.2:c.356-19G>C	ENSP00000445389.1:n.356-19G>C
ENST00000620802.4:c.282+169G>C	ENSP00000484081.1:n.282+169G>C
NM_001136.4:c.356-71G>C	NP_001127.1:n.356-71G>C
NM_001206929.1:c.356-71G>C	NP_001193858.1:n.356-71G>C
NM_001206932.1:c.314-71G>C	NP_001193861.1:n.314-71G>C
NM_001206934.1:c.356-71G>C	NP_001193863.1:n.356-71G>C
NM_001206936.1:c.356-71G>C	NP_001193865.1:n.356-71G>C
NM_001206940.1:c.356-71G>C	NP_001193869.1:n.356-71G>C
NM_001206954.1:c.356-71G>C	NP_001193883.1:n.356-71G>C
NM_001206966.1:c.356-71G>C	NP_001193895.1:n.356-71G>C
NM_172197.2:c.314-71G>C	NP_751947.1:n.314-71G>C
NR_038190.1:n.639-71G>C
XM_017010328.2:c.449-71G>C	XP_016865817.1:n.449-71G>C
XR_001743189.2:n.514-71G>C
XR_001743190.2:n.514-71G>C
NM_001136.5:c.356-71G>C MANE Select	NP_001127.1:n.356-71G>C
NM_001206932.2:c.314-71G>C	NP_001193861.1:n.314-71G>C
NM_001206936.2:c.356-71G>C	NP_001193865.1:n.356-71G>C
NM_001206940.2:c.356-71G>C	NP_001193869.1:n.356-71G>C
NM_001206954.2:c.356-71G>C	NP_001193883.1:n.356-71G>C
NM_001206966.2:c.356-71G>C	NP_001193895.1:n.356-71G>C
NM_172197.3:c.314-71G>C	NP_751947.1:n.314-71G>C
NR_038190.2:n.570-71G>C
NM_001206929.2:c.356-71G>C	NP_001193858.1:n.356-71G>C
NM_001206934.2:c.356-71G>C	NP_001193863.1:n.356-71G>C