Canonical Allele Identifier: CA363509917

Gene: AGER

Linked Data

• gnomAD v4: 6-32181385-A-G
• MyVariant Identifiers: chr6:g.32149162A>G (hg19) ; chr6:g.32181385A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181385A>G , CM000668.2:g.32181385A>G	GRCh38
NC_000006.11:g.32149162A>G , CM000668.1:g.32149162A>G	GRCh37
NC_000006.10:g.32257140A>G	NCBI36
NG_029868.1:g.7938T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375076.9:c.1084T>C MANE Select	ENSP00000364217.4:p.Leu362=
ENST00000375055.6:c.*29+139T>C	ENSP00000364195.2:n.*29+139T>C
ENST00000375065.6:c.271T>C	ENSP00000364206.6:p.Leu91=
ENST00000375067.7:c.929T>C	ENSP00000364208.3:p.Leu310Pro
ENST00000375069.7:c.1132T>C	ENSP00000364210.4:p.Leu378=
ENST00000375070.7:c.754T>C	ENSP00000364211.4:p.Leu252=
ENST00000375076.8:c.1084T>C	ENSP00000364217.4:p.Leu362=
ENST00000438221.6:c.*29+139T>C	ENSP00000387887.2:n.*29+139T>C
ENST00000469940.5:n.251T>C
ENST00000473619.5:n.626T>C
ENST00000484849.5:n.1291T>C
ENST00000488669.5:n.615+139T>C
ENST00000620802.4:c.331T>C	ENSP00000484081.1:p.Leu111=
NM_001136.4:c.1084T>C	NP_001127.1:p.Leu362=
NM_001206929.1:c.1132T>C	NP_001193858.1:p.Leu378=
NM_001206932.1:c.1042T>C	NP_001193861.1:p.Leu348=
NM_001206934.1:c.*29+139T>C	NP_001193863.1:n.*29+139T>C
NM_001206936.1:c.1021+139T>C	NP_001193865.1:n.1021+139T>C
NM_001206940.1:c.*29+139T>C	NP_001193869.1:n.*29+139T>C
NM_001206954.1:c.931+139T>C	NP_001193883.1:n.931+139T>C
NM_001206966.1:c.*29+139T>C	NP_001193895.1:n.*29+139T>C
NM_172197.2:c.929T>C	NP_751947.1:p.Leu310Pro
NR_038190.1:n.1367T>C
XM_017010328.2:c.1072+139T>C	XP_016865817.1:n.1072+139T>C
XR_001743189.2:n.1148T>C
XR_001743190.2:n.1100T>C
NM_001136.5:c.1084T>C MANE Select	NP_001127.1:p.Leu362=
NM_001206932.2:c.1042T>C	NP_001193861.1:p.Leu348=
NM_001206936.2:c.1021+139T>C	NP_001193865.1:n.1021+139T>C
NM_001206940.2:c.*29+139T>C	NP_001193869.1:n.*29+139T>C
NM_001206954.2:c.931+139T>C	NP_001193883.1:n.931+139T>C
NM_001206966.2:c.*29+139T>C	NP_001193895.1:n.*29+139T>C
NM_172197.3:c.929T>C	NP_751947.1:p.Leu310Pro
NR_038190.2:n.1298T>C
NM_001206929.2:c.1132T>C	NP_001193858.1:p.Leu378=
NM_001206934.2:c.*29+139T>C	NP_001193863.1:n.*29+139T>C