Canonical Allele Identifier: CA4517491

Gene: AGK

Linked Data

• ClinVar Variation Id: 391661
• ClinVar RCV Id: RCV000422562 ; RCV003766443
• dbSNP Id: rs755469922
• ExAC: 7:141321527 T / C
• gnomAD v2: 7-141321527-T-C
• gnomAD v3: 7-141621727-T-C
• gnomAD v4: 7-141621727-T-C
• MyVariant Identifiers: chr7:g.141321527T>C (hg19) ; chr7:g.141621727T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.141621727T>C , CM000669.2:g.141621727T>C	GRCh38
NC_000007.13:g.141321527T>C , CM000669.1:g.141321527T>C	GRCh37
NC_000007.12:g.140967996T>C	NCBI36
NG_032079.1:g.75450T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647568.1:c.*482-5T>C	ENSP00000497039.1:n.*482-5T>C
ENST00000647898.1:n.409-5T>C
ENST00000648068.1:c.519-5T>C	ENSP00000498112.1:n.519-5T>C
ENST00000648395.1:c.243-5T>C	ENSP00000497666.1:n.243-5T>C
ENST00000648489.1:n.550-5T>C
ENST00000648690.1:c.243-5T>C	ENSP00000497945.1:n.243-5T>C
ENST00000649014.1:c.519-5T>C	ENSP00000497984.1:n.519-5T>C
ENST00000649286.2:c.519-5T>C MANE Select	ENSP00000497280.1:n.519-5T>C
ENST00000649365.1:c.*527-5T>C	ENSP00000496835.1:n.*527-5T>C
ENST00000649790.1:c.243-5T>C	ENSP00000498193.1:n.243-5T>C
ENST00000649914.1:c.507-5T>C	ENSP00000497848.1:n.507-5T>C
ENST00000650006.1:c.519-5T>C	ENSP00000497457.1:n.519-5T>C
ENST00000650365.1:c.*404-5T>C	ENSP00000497358.1:n.*404-5T>C
ENST00000650547.1:c.519-5T>C	ENSP00000496789.1:n.519-5T>C
ENST00000355413.8:c.519-5T>C	ENSP00000347581.4:n.519-5T>C
ENST00000473247.5:c.435-5T>C	ENSP00000420776.1:n.435-5T>C
ENST00000473884.5:c.*338-5T>C	ENSP00000420540.1:n.*338-5T>C
ENST00000494688.1:c.510-5T>C	ENSP00000418101.1:n.510-5T>C
ENST00000629555.2:c.510-5T>C	ENSP00000487274.1:n.510-5T>C
NM_018238.3:c.519-5T>C	NP_060708.1:n.519-5T>C
XM_005250023.3:c.519-5T>C	XP_005250080.1:n.519-5T>C
XM_011516397.1:c.519-5T>C	XP_011514699.1:n.519-5T>C
NM_001364948.1:c.519-5T>C	NP_001351877.1:n.519-5T>C
NM_018238.4:c.519-5T>C MANE Select	NP_060708.1:n.519-5T>C
XM_011516397.3:c.519-5T>C	XP_011514699.1:n.519-5T>C
XM_024446835.1:c.519-5T>C	XP_024302603.1:n.519-5T>C
NM_001364948.2:c.519-5T>C	NP_001351877.1:n.519-5T>C
NM_001364948.3:c.519-5T>C	NP_001351877.1:n.519-5T>C