Canonical Allele Identifier: CA3738245

Gene: AGER

Linked Data

• dbSNP Id: rs762171687
• ExAC: 6:32151341 G / A
• gnomAD v2: 6-32151341-G-A
• gnomAD v4: 6-32183564-G-A
• MyVariant Identifiers: chr6:g.32151341G>A (hg19) ; chr6:g.32183564G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32183564G>A , CM000668.2:g.32183564G>A	GRCh38
NC_000006.11:g.32151341G>A , CM000668.1:g.32151341G>A	GRCh37
NC_000006.10:g.32259319G>A	NCBI36
NG_029868.1:g.5759C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.346C>T MANE Select	ENSP00000364217.4:p.Arg116Cys
ENST00000375055.6:c.346C>T	ENSP00000364195.2:p.Arg116Cys
ENST00000375056.6:c.346C>T	ENSP00000364196.2:p.Arg116Cys
ENST00000375065.6:c.-182+394C>T	ENSP00000364206.6:n.-182+394C>T
ENST00000375067.7:c.304C>T	ENSP00000364208.3:p.Arg102Cys
ENST00000375069.7:c.346C>T	ENSP00000364210.4:p.Arg116Cys
ENST00000375070.7:c.43C>T	ENSP00000364211.4:p.Arg15Cys
ENST00000375076.8:c.346C>T	ENSP00000364217.4:p.Arg116Cys
ENST00000438221.6:c.346C>T	ENSP00000387887.2:p.Arg116Cys
ENST00000450110.5:c.342+4C>T	ENSP00000398466.1:n.342+4C>T
ENST00000484849.5:n.553C>T
ENST00000538695.2:c.346C>T	ENSP00000445389.1:p.Arg116Cys
ENST00000620802.4:c.282+64C>T	ENSP00000484081.1:n.282+64C>T
NM_001136.4:c.346C>T	NP_001127.1:p.Arg116Cys
NM_001206929.1:c.346C>T	NP_001193858.1:p.Arg116Cys
NM_001206932.1:c.304C>T	NP_001193861.1:p.Arg102Cys
NM_001206934.1:c.346C>T	NP_001193863.1:p.Arg116Cys
NM_001206936.1:c.346C>T	NP_001193865.1:p.Arg116Cys
NM_001206940.1:c.346C>T	NP_001193869.1:p.Arg116Cys
NM_001206954.1:c.346C>T	NP_001193883.1:p.Arg116Cys
NM_001206966.1:c.346C>T	NP_001193895.1:p.Arg116Cys
NM_172197.2:c.304C>T	NP_751947.1:p.Arg102Cys
NR_038190.1:n.629C>T
XM_017010328.2:c.439C>T	XP_016865817.1:p.Arg147Cys
XR_001743189.2:n.504C>T
XR_001743190.2:n.504C>T
NM_001136.5:c.346C>T MANE Select	NP_001127.1:p.Arg116Cys
NM_001206932.2:c.304C>T	NP_001193861.1:p.Arg102Cys
NM_001206936.2:c.346C>T	NP_001193865.1:p.Arg116Cys
NM_001206940.2:c.346C>T	NP_001193869.1:p.Arg116Cys
NM_001206954.2:c.346C>T	NP_001193883.1:p.Arg116Cys
NM_001206966.2:c.346C>T	NP_001193895.1:p.Arg116Cys
NM_172197.3:c.304C>T	NP_751947.1:p.Arg102Cys
NR_038190.2:n.560C>T
NM_001206929.2:c.346C>T	NP_001193858.1:p.Arg116Cys
NM_001206934.2:c.346C>T	NP_001193863.1:p.Arg116Cys