Canonical Allele Identifier: CA3738246

Gene: AGER

Linked Data

• dbSNP Id: rs767739122
• ExAC: 6:32151343 A / G
• gnomAD v2: 6-32151343-A-G
• gnomAD v4: 6-32183566-A-G
• MyVariant Identifiers: chr6:g.32151343A>G (hg19) ; chr6:g.32183566A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32183566A>G , CM000668.2:g.32183566A>G	GRCh38
NC_000006.11:g.32151343A>G , CM000668.1:g.32151343A>G	GRCh37
NC_000006.10:g.32259321A>G	NCBI36
NG_029868.1:g.5757T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375076.9:c.344T>C MANE Select	ENSP00000364217.4:p.Val115Ala
ENST00000375055.6:c.344T>C	ENSP00000364195.2:p.Val115Ala
ENST00000375056.6:c.344T>C	ENSP00000364196.2:p.Val115Ala
ENST00000375065.6:c.-182+392T>C	ENSP00000364206.6:n.-182+392T>C
ENST00000375067.7:c.302T>C	ENSP00000364208.3:p.Val101Ala
ENST00000375069.7:c.344T>C	ENSP00000364210.4:p.Val115Ala
ENST00000375070.7:c.41T>C	ENSP00000364211.4:p.Val14Ala
ENST00000375076.8:c.344T>C	ENSP00000364217.4:p.Val115Ala
ENST00000438221.6:c.344T>C	ENSP00000387887.2:p.Val115Ala
ENST00000450110.5:c.342+2T>C	ENSP00000398466.1:n.342+2T>C
ENST00000484849.5:n.551T>C
ENST00000538695.2:c.344T>C	ENSP00000445389.1:p.Val115Ala
ENST00000620802.4:c.282+62T>C	ENSP00000484081.1:n.282+62T>C
NM_001136.4:c.344T>C	NP_001127.1:p.Val115Ala
NM_001206929.1:c.344T>C	NP_001193858.1:p.Val115Ala
NM_001206932.1:c.302T>C	NP_001193861.1:p.Val101Ala
NM_001206934.1:c.344T>C	NP_001193863.1:p.Val115Ala
NM_001206936.1:c.344T>C	NP_001193865.1:p.Val115Ala
NM_001206940.1:c.344T>C	NP_001193869.1:p.Val115Ala
NM_001206954.1:c.344T>C	NP_001193883.1:p.Val115Ala
NM_001206966.1:c.344T>C	NP_001193895.1:p.Val115Ala
NM_172197.2:c.302T>C	NP_751947.1:p.Val101Ala
NR_038190.1:n.627T>C
XM_017010328.2:c.437T>C	XP_016865817.1:p.Val146Ala
XR_001743189.2:n.502T>C
XR_001743190.2:n.502T>C
NM_001136.5:c.344T>C MANE Select	NP_001127.1:p.Val115Ala
NM_001206932.2:c.302T>C	NP_001193861.1:p.Val101Ala
NM_001206936.2:c.344T>C	NP_001193865.1:p.Val115Ala
NM_001206940.2:c.344T>C	NP_001193869.1:p.Val115Ala
NM_001206954.2:c.344T>C	NP_001193883.1:p.Val115Ala
NM_001206966.2:c.344T>C	NP_001193895.1:p.Val115Ala
NM_172197.3:c.302T>C	NP_751947.1:p.Val101Ala
NR_038190.2:n.558T>C
NM_001206929.2:c.344T>C	NP_001193858.1:p.Val115Ala
NM_001206934.2:c.344T>C	NP_001193863.1:p.Val115Ala