Canonical Allele Identifier: CA363510918

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32149390T>G (hg19) ; chr6:g.32181613T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181613T>G , CM000668.2:g.32181613T>G	GRCh38
NC_000006.11:g.32149390T>G , CM000668.1:g.32149390T>G	GRCh37
NC_000006.10:g.32257368T>G	NCBI36
NG_029868.1:g.7710A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.984A>C MANE Select	ENSP00000364217.4:p.Pro328=
ENST00000375055.6:c.984A>C	ENSP00000364195.2:p.Pro328=
ENST00000375065.6:c.171A>C	ENSP00000364206.6:p.Pro57=
ENST00000375067.7:c.829A>C	ENSP00000364208.3:p.Asn277His
ENST00000375069.7:c.1032A>C	ENSP00000364210.4:p.Pro344=
ENST00000375070.7:c.662-136A>C	ENSP00000364211.4:n.662-136A>C
ENST00000375076.8:c.984A>C	ENSP00000364217.4:p.Pro328=
ENST00000438221.6:c.1032A>C	ENSP00000387887.2:p.Pro344=
ENST00000469940.5:n.23A>C
ENST00000473619.5:n.526A>C
ENST00000484849.5:n.1191A>C
ENST00000488669.5:n.526A>C
ENST00000620802.4:c.283-180A>C	ENSP00000484081.1:n.283-180A>C
NM_001136.4:c.984A>C	NP_001127.1:p.Pro328=
NM_001206929.1:c.1032A>C	NP_001193858.1:p.Pro344=
NM_001206932.1:c.942A>C	NP_001193861.1:p.Pro314=
NM_001206934.1:c.1032A>C	NP_001193863.1:p.Pro344=
NM_001206936.1:c.932A>C	NP_001193865.1:p.Gln311Pro
NM_001206940.1:c.984A>C	NP_001193869.1:p.Pro328=
NM_001206954.1:c.842A>C	NP_001193883.1:p.Gln281Pro
NM_001206966.1:c.984A>C	NP_001193895.1:p.Pro328=
NM_172197.2:c.829A>C	NP_751947.1:p.Asn277His
NR_038190.1:n.1267A>C
XM_017010328.2:c.983A>C	XP_016865817.1:p.Gln328Pro
XR_001743189.2:n.1048A>C
XR_001743190.2:n.1000A>C
NM_001136.5:c.984A>C MANE Select	NP_001127.1:p.Pro328=
NM_001206932.2:c.942A>C	NP_001193861.1:p.Pro314=
NM_001206936.2:c.932A>C	NP_001193865.1:p.Gln311Pro
NM_001206940.2:c.984A>C	NP_001193869.1:p.Pro328=
NM_001206954.2:c.842A>C	NP_001193883.1:p.Gln281Pro
NM_001206966.2:c.984A>C	NP_001193895.1:p.Pro328=
NM_172197.3:c.829A>C	NP_751947.1:p.Asn277His
NR_038190.2:n.1198A>C
NM_001206929.2:c.1032A>C	NP_001193858.1:p.Pro344=
NM_001206934.2:c.1032A>C	NP_001193863.1:p.Pro344=