Canonical Allele Identifier: CA4517545

Gene: AGK

Linked Data

• ClinVar Variation Id: 514781
• ClinVar RCV Id: RCV001159785 ; RCV001159786 ; RCV002066546 ; RCV001698096
• dbSNP Id: rs150732826
• ExAC: 7:141336775 G / A
• gnomAD v2: 7-141336775-G-A
• gnomAD v3: 7-141636975-G-A
• gnomAD v4: 7-141636975-G-A
• MyVariant Identifiers: chr7:g.141336775G>A (hg19) ; chr7:g.141636975G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.141636975G>A , CM000669.2:g.141636975G>A	GRCh38
NC_000007.13:g.141336775G>A , CM000669.1:g.141336775G>A	GRCh37
NC_000007.12:g.140983244G>A	NCBI36
NG_032079.1:g.90698G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647568.1:c.*647G>A	ENSP00000497039.1:n.*647G>A
ENST00000648068.1:c.684G>A	ENSP00000498112.1:p.Gly228=
ENST00000648395.1:c.408G>A	ENSP00000497666.1:p.Gly136=
ENST00000648489.1:n.715G>A
ENST00000648690.1:c.408G>A	ENSP00000497945.1:p.Gly136=
ENST00000649014.1:c.604G>A	ENSP00000497984.1:p.Ala202Thr
ENST00000649286.2:c.684G>A MANE Select	ENSP00000497280.1:p.Gly228=
ENST00000649365.1:c.*692G>A	ENSP00000496835.1:n.*692G>A
ENST00000649790.1:c.*120G>A	ENSP00000498193.1:n.*120G>A
ENST00000649914.1:c.672G>A	ENSP00000497848.1:p.Gly224=
ENST00000650006.1:c.684G>A	ENSP00000497457.1:p.Gly228=
ENST00000650365.1:c.*569G>A	ENSP00000497358.1:n.*569G>A
ENST00000650547.1:c.684G>A	ENSP00000496789.1:p.Gly228=
ENST00000355413.8:c.684G>A	ENSP00000347581.4:p.Gly228=
ENST00000473247.5:c.600G>A	ENSP00000420776.1:p.Gly200=
ENST00000494688.1:c.675G>A	ENSP00000418101.1:p.Gly225=
ENST00000629555.2:c.675G>A	ENSP00000487274.1:p.Gly225=
NM_018238.3:c.684G>A	NP_060708.1:p.Gly228=
XM_005250023.3:c.684G>A	XP_005250080.1:p.Gly228=
XM_011516397.1:c.684G>A	XP_011514699.1:p.Gly228=
NM_001364948.1:c.684G>A	NP_001351877.1:p.Gly228=
NM_018238.4:c.684G>A MANE Select	NP_060708.1:p.Gly228=
XM_011516397.3:c.684G>A	XP_011514699.1:p.Gly228=
XM_024446835.1:c.684G>A	XP_024302603.1:p.Gly228=
NM_001364948.2:c.684G>A	NP_001351877.1:p.Gly228=
NM_001364948.3:c.684G>A	NP_001351877.1:p.Gly228=