Canonical Allele Identifier: CA136914058

Gene: AGER

Linked Data

• dbSNP Id: rs540836997
• gnomAD v3: 6-32181881-G-T
• gnomAD v4: 6-32181881-G-T
• MyVariant Identifiers: chr6:g.32149658G>T (hg19) ; chr6:g.32181881G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181881G>T , CM000668.2:g.32181881G>T	GRCh38
NC_000006.11:g.32149658G>T , CM000668.1:g.32149658G>T	GRCh37
NC_000006.10:g.32257636G>T	NCBI36
NG_029868.1:g.7442C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.965-249C>A MANE Select	ENSP00000364217.4:n.965-249C>A
ENST00000375055.6:c.965-249C>A	ENSP00000364195.2:n.965-249C>A
ENST00000375065.6:c.152-249C>A	ENSP00000364206.6:n.152-249C>A
ENST00000375067.7:c.810-249C>A	ENSP00000364208.3:n.810-249C>A
ENST00000375069.7:c.1013-249C>A	ENSP00000364210.4:n.1013-249C>A
ENST00000375070.7:c.661+366C>A	ENSP00000364211.4:n.661+366C>A
ENST00000375076.8:c.965-249C>A	ENSP00000364217.4:n.965-249C>A
ENST00000438221.6:c.1013-249C>A	ENSP00000387887.2:n.1013-249C>A
ENST00000473619.5:n.507-249C>A
ENST00000484849.5:n.1172-249C>A
ENST00000488669.5:n.507-249C>A
ENST00000620802.4:c.283-448C>A	ENSP00000484081.1:n.283-448C>A
NM_001136.4:c.965-249C>A	NP_001127.1:n.965-249C>A
NM_001206929.1:c.1013-249C>A	NP_001193858.1:n.1013-249C>A
NM_001206932.1:c.923-249C>A	NP_001193861.1:n.923-249C>A
NM_001206934.1:c.1013-249C>A	NP_001193863.1:n.1013-249C>A
NM_001206936.1:c.913-249C>A	NP_001193865.1:n.913-249C>A
NM_001206940.1:c.965-249C>A	NP_001193869.1:n.965-249C>A
NM_001206954.1:c.823-249C>A	NP_001193883.1:n.823-249C>A
NM_001206966.1:c.965-249C>A	NP_001193895.1:n.965-249C>A
NM_172197.2:c.810-249C>A	NP_751947.1:n.810-249C>A
NR_038190.1:n.1248-249C>A
XM_017010328.2:c.964-249C>A	XP_016865817.1:n.964-249C>A
XR_001743189.2:n.1029-249C>A
XR_001743190.2:n.981-249C>A
NM_001136.5:c.965-249C>A MANE Select	NP_001127.1:n.965-249C>A
NM_001206932.2:c.923-249C>A	NP_001193861.1:n.923-249C>A
NM_001206936.2:c.913-249C>A	NP_001193865.1:n.913-249C>A
NM_001206940.2:c.965-249C>A	NP_001193869.1:n.965-249C>A
NM_001206954.2:c.823-249C>A	NP_001193883.1:n.823-249C>A
NM_001206966.2:c.965-249C>A	NP_001193895.1:n.965-249C>A
NM_172197.3:c.810-249C>A	NP_751947.1:n.810-249C>A
NR_038190.2:n.1179-249C>A
NM_001206929.2:c.1013-249C>A	NP_001193858.1:n.1013-249C>A
NM_001206934.2:c.1013-249C>A	NP_001193863.1:n.1013-249C>A