Canonical Allele Identifier: CA136913515

Gene: AGER

Linked Data

• dbSNP Id: rs149968577
• gnomAD v4: 6-32181364-G-A
• MyVariant Identifiers: chr6:g.32149141G>A (hg19) ; chr6:g.32181364G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181364G>A , CM000668.2:g.32181364G>A	GRCh38
NC_000006.11:g.32149141G>A , CM000668.1:g.32149141G>A	GRCh37
NC_000006.10:g.32257119G>A	NCBI36
NG_029868.1:g.7959C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1105C>T MANE Select	ENSP00000364217.4:p.Arg369Ter
ENST00000375055.6:c.*30-125C>T	ENSP00000364195.2:n.*30-125C>T
ENST00000375065.6:c.292C>T	ENSP00000364206.6:p.Arg98Ter
ENST00000375067.7:c.950C>T	ENSP00000364208.3:p.Pro317Leu
ENST00000375069.7:c.1153C>T	ENSP00000364210.4:p.Arg385Ter
ENST00000375070.7:c.775C>T	ENSP00000364211.4:p.Arg259Ter
ENST00000375076.8:c.1105C>T	ENSP00000364217.4:p.Arg369Ter
ENST00000438221.6:c.*30-125C>T	ENSP00000387887.2:n.*30-125C>T
ENST00000469940.5:n.272C>T
ENST00000473619.5:n.647C>T
ENST00000484849.5:n.1312C>T
ENST00000488669.5:n.616-125C>T
ENST00000620802.4:c.352C>T	ENSP00000484081.1:p.Arg118Ter
NM_001136.4:c.1105C>T	NP_001127.1:p.Arg369Ter
NM_001206929.1:c.1153C>T	NP_001193858.1:p.Arg385Ter
NM_001206932.1:c.1063C>T	NP_001193861.1:p.Arg355Ter
NM_001206934.1:c.*30-125C>T	NP_001193863.1:n.*30-125C>T
NM_001206936.1:c.1022-125C>T	NP_001193865.1:n.1022-125C>T
NM_001206940.1:c.*30-125C>T	NP_001193869.1:n.*30-125C>T
NM_001206954.1:c.932-125C>T	NP_001193883.1:n.932-125C>T
NM_001206966.1:c.*29+160C>T	NP_001193895.1:n.*29+160C>T
NM_172197.2:c.950C>T	NP_751947.1:p.Pro317Leu
NR_038190.1:n.1388C>T
XM_017010328.2:c.1073-125C>T	XP_016865817.1:n.1073-125C>T
XR_001743189.2:n.1169C>T
XR_001743190.2:n.1121C>T
NM_001136.5:c.1105C>T MANE Select	NP_001127.1:p.Arg369Ter
NM_001206932.2:c.1063C>T	NP_001193861.1:p.Arg355Ter
NM_001206936.2:c.1022-125C>T	NP_001193865.1:n.1022-125C>T
NM_001206940.2:c.*30-125C>T	NP_001193869.1:n.*30-125C>T
NM_001206954.2:c.932-125C>T	NP_001193883.1:n.932-125C>T
NM_001206966.2:c.*29+160C>T	NP_001193895.1:n.*29+160C>T
NM_172197.3:c.950C>T	NP_751947.1:p.Pro317Leu
NR_038190.2:n.1319C>T
NM_001206929.2:c.1153C>T	NP_001193858.1:p.Arg385Ter
NM_001206934.2:c.*30-125C>T	NP_001193863.1:n.*30-125C>T