Canonical Allele Identifier: CA369540815

Gene: AGK

Linked Data

• dbSNP Id: rs1426422244
• MyVariant Identifiers: chr7:g.141349068A>C (hg19) ; chr7:g.141649268A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.141649268A>C , CM000669.2:g.141649268A>C	GRCh38
NC_000007.13:g.141349068A>C , CM000669.1:g.141349068A>C	GRCh37
NC_000007.12:g.140995537A>C	NCBI36
NG_032079.1:g.102991A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647568.1:c.*944A>C	ENSP00000497039.1:n.*944A>C
ENST00000648068.1:c.981A>C	ENSP00000498112.1:p.Lys327Asn
ENST00000648395.1:c.705A>C	ENSP00000497666.1:p.Lys235Asn
ENST00000648489.1:n.1012A>C
ENST00000649014.1:c.*256A>C	ENSP00000497984.1:n.*256A>C
ENST00000649286.2:c.981A>C MANE Select	ENSP00000497280.1:p.Lys327Asn
ENST00000649365.1:c.*989A>C	ENSP00000496835.1:n.*989A>C
ENST00000649790.1:c.*417A>C	ENSP00000498193.1:n.*417A>C
ENST00000649914.1:c.969A>C	ENSP00000497848.1:p.Lys323Asn
ENST00000650006.1:c.981A>C	ENSP00000497457.1:p.Lys327Asn
ENST00000650365.1:c.*866A>C	ENSP00000497358.1:n.*866A>C
ENST00000650547.1:c.981A>C	ENSP00000496789.1:p.Lys327Asn
ENST00000355413.8:c.981A>C	ENSP00000347581.4:p.Lys327Asn
ENST00000473247.5:c.897A>C	ENSP00000420776.1:p.Lys299Asn
ENST00000494053.1:n.138A>C
ENST00000494688.1:c.*86A>C	ENSP00000418101.1:n.*86A>C
ENST00000629555.2:c.*86A>C	ENSP00000487274.1:n.*86A>C
NM_018238.3:c.981A>C	NP_060708.1:p.Lys327Asn
XM_005250023.3:c.981A>C	XP_005250080.1:p.Lys327Asn
XM_011516397.1:c.981A>C	XP_011514699.1:p.Lys327Asn
NM_001364948.1:c.981A>C	NP_001351877.1:p.Lys327Asn
NM_018238.4:c.981A>C MANE Select	NP_060708.1:p.Lys327Asn
XM_011516397.3:c.981A>C	XP_011514699.1:p.Lys327Asn
XM_024446835.1:c.981A>C	XP_024302603.1:p.Lys327Asn
NM_001364948.2:c.981A>C	NP_001351877.1:p.Lys327Asn
NM_001364948.3:c.981A>C	NP_001351877.1:p.Lys327Asn