Canonical Allele Identifier: CA2662084707

Gene: AGPS

Linked Data

• gnomAD v4: 2-177521221-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177521221G>T , CM000664.2:g.177521221G>T	GRCh38
NC_000002.11:g.178385949G>T , CM000664.1:g.178385949G>T	GRCh37
NC_000002.10:g.178094195G>T	NCBI36
NG_008968.1:g.133479G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264167.11:c.1698-48G>T MANE Select	ENSP00000264167.4:n.1698-48G>T
ENST00000637633.2:c.1698-48G>T	ENSP00000490844.2:n.1698-48G>T
ENST00000642466.2:c.1698-48G>T	ENSP00000494433.2:n.1698-48G>T
ENST00000679421.1:n.2927-48G>T
ENST00000679459.1:c.1698-48G>T	ENSP00000506137.1:n.1698-48G>T
ENST00000679478.1:c.1428-48G>T	ENSP00000506484.1:n.1428-48G>T
ENST00000679994.1:c.1428-48G>T	ENSP00000504957.1:n.1428-48G>T
ENST00000680028.1:n.3062-48G>T
ENST00000680155.1:c.1428-48G>T	ENSP00000505333.1:n.1428-48G>T
ENST00000680390.1:n.733-48G>T
ENST00000680770.1:c.1698-48G>T	ENSP00000505536.1:n.1698-48G>T
ENST00000680893.1:c.*946-48G>T	ENSP00000505929.1:n.*946-48G>T
ENST00000681028.1:c.*125-48G>T	ENSP00000506323.1:n.*125-48G>T
ENST00000681032.1:c.*1076-48G>T	ENSP00000505205.1:n.*1076-48G>T
ENST00000681300.1:n.653-48G>T
ENST00000681449.1:c.1428-48G>T	ENSP00000505342.1:n.1428-48G>T
ENST00000681565.1:c.*831-48G>T	ENSP00000505620.1:n.*831-48G>T
ENST00000681752.1:c.*1468-48G>T	ENSP00000504994.1:n.*1468-48G>T
ENST00000681891.1:n.5333-48G>T
ENST00000264167.8:c.1698-48G>T	ENSP00000264167.4:n.1698-48G>T
ENST00000409888.1:c.351-108G>T	ENSP00000386688.1:n.351-108G>T
NM_003659.3:c.1698-48G>T	NP_003650.1:n.1698-48G>T
XM_011512041.1:c.1428-48G>T	XP_011510343.1:n.1428-48G>T
XM_011512042.1:c.1428-48G>T	XP_011510344.1:n.1428-48G>T
XM_011512043.1:c.963-48G>T	XP_011510345.1:n.963-48G>T
XM_011512041.2:c.1428-48G>T	XP_011510343.1:n.1428-48G>T
XM_011512043.2:c.963-48G>T	XP_011510345.1:n.963-48G>T
XR_001739007.2:n.1606-48G>T
NM_003659.4:c.1698-48G>T MANE Select	NP_003650.1:n.1698-48G>T