Canonical Allele Identifier: CA3737963

Gene: AGER

Linked Data

• dbSNP Id: rs139049509
• ExAC: 6:32149365 C / T
• gnomAD v2: 6-32149365-C-T
• gnomAD v4: 6-32181588-C-T
• MyVariant Identifiers: chr6:g.32149365C>T (hg19) ; chr6:g.32181588C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181588C>T , CM000668.2:g.32181588C>T	GRCh38
NC_000006.11:g.32149365C>T , CM000668.1:g.32149365C>T	GRCh37
NC_000006.10:g.32257343C>T	NCBI36
NG_029868.1:g.7735G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.991+18G>A MANE Select	ENSP00000364217.4:n.991+18G>A
ENST00000375055.6:c.1009G>A	ENSP00000364195.2:p.Val337Ile
ENST00000375065.6:c.178+18G>A	ENSP00000364206.6:n.178+18G>A
ENST00000375067.7:c.836+18G>A	ENSP00000364208.3:n.836+18G>A
ENST00000375069.7:c.1039+18G>A	ENSP00000364210.4:n.1039+18G>A
ENST00000375070.7:c.662-111G>A	ENSP00000364211.4:n.662-111G>A
ENST00000375076.8:c.991+18G>A	ENSP00000364217.4:n.991+18G>A
ENST00000438221.6:c.1057G>A	ENSP00000387887.2:p.Val353Ile
ENST00000469940.5:n.48G>A
ENST00000473619.5:n.533+18G>A
ENST00000484849.5:n.1198+18G>A
ENST00000488669.5:n.551G>A
ENST00000620802.4:c.283-155G>A	ENSP00000484081.1:n.283-155G>A
NM_001136.4:c.991+18G>A	NP_001127.1:n.991+18G>A
NM_001206929.1:c.1039+18G>A	NP_001193858.1:n.1039+18G>A
NM_001206932.1:c.949+18G>A	NP_001193861.1:n.949+18G>A
NM_001206934.1:c.1057G>A	NP_001193863.1:p.Val353Ile
NM_001206936.1:c.957G>A	NP_001193865.1:p.Lys319=
NM_001206940.1:c.1009G>A	NP_001193869.1:p.Val337Ile
NM_001206954.1:c.867G>A	NP_001193883.1:p.Lys289=
NM_001206966.1:c.1009G>A	NP_001193895.1:p.Val337Ile
NM_172197.2:c.836+18G>A	NP_751947.1:n.836+18G>A
NR_038190.1:n.1274+18G>A
XM_017010328.2:c.1008G>A	XP_016865817.1:p.Lys336=
XR_001743189.2:n.1055+18G>A
XR_001743190.2:n.1007+18G>A
NM_001136.5:c.991+18G>A MANE Select	NP_001127.1:n.991+18G>A
NM_001206932.2:c.949+18G>A	NP_001193861.1:n.949+18G>A
NM_001206936.2:c.957G>A	NP_001193865.1:p.Lys319=
NM_001206940.2:c.1009G>A	NP_001193869.1:p.Val337Ile
NM_001206954.2:c.867G>A	NP_001193883.1:p.Lys289=
NM_001206966.2:c.1009G>A	NP_001193895.1:p.Val337Ile
NM_172197.3:c.836+18G>A	NP_751947.1:n.836+18G>A
NR_038190.2:n.1205+18G>A
NM_001206929.2:c.1039+18G>A	NP_001193858.1:n.1039+18G>A
NM_001206934.2:c.1057G>A	NP_001193863.1:p.Val353Ile