Canonical Allele Identifier: CA3206001

Gene: TRIO

Linked Data

• ClinVar Variation Id: 3065881
• ClinVar RCV Id: RCV003990958
• dbSNP Id: rs780268669
• ExAC: 5:14366985 G / A
• gnomAD v2: 5-14366985-G-A
• gnomAD v4: 5-14366876-G-A
• MyVariant Identifiers: chr5:g.14366985G>A (hg19) ; chr5:g.14366876G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14366876G>A , CM000667.2:g.14366876G>A	GRCh38
NC_000005.9:g.14366985G>A , CM000667.1:g.14366985G>A	GRCh37
NC_000005.8:g.14419985G>A	NCBI36
NG_052962.1:g.228175G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698541.1:c.2771G>A	ENSP00000513786.1:p.Arg924His
ENST00000704488.1:c.2642G>A	ENSP00000515916.1:p.Arg881His
ENST00000344204.9:c.2771G>A MANE Select	ENSP00000339299.4:p.Arg924His
ENST00000344204.8:c.2771G>A	ENSP00000339299.4:p.Arg924His
ENST00000509967.6:c.2624G>A	ENSP00000445592.1:p.Arg875His
ENST00000512070.6:c.2594G>A	ENSP00000421555.2:p.Arg865His
ENST00000513206.5:c.1970G>A	ENSP00000426342.2:p.Arg657His
ENST00000515144.5:n.1689G>A
NM_007118.2:c.2771G>A	NP_009049.2:p.Arg924His
XM_011514107.1:c.2708G>A	XP_011512409.1:p.Arg903His
XM_011514108.1:c.2654G>A	XP_011512410.1:p.Arg885His
XM_011514109.1:c.2624G>A	XP_011512411.1:p.Arg875His
XM_011514110.1:c.2594G>A	XP_011512412.1:p.Arg865His
XM_011514111.1:c.2594G>A	XP_011512413.1:p.Arg865His
XM_011514112.1:c.1316G>A	XP_011512414.1:p.Arg439His
XM_011514113.1:c.2771G>A	XP_011512415.1:p.Arg924His
XR_241714.1:n.2789G>A
NM_007118.3:c.2771G>A	NP_009049.2:p.Arg924His
NR_134469.1:n.2795G>A
XM_011514107.2:c.2708G>A	XP_011512409.1:p.Arg903His
XM_011514109.3:c.2624G>A	XP_011512411.1:p.Arg875His
XM_011514110.3:c.2594G>A	XP_011512412.1:p.Arg865His
XM_017009801.1:c.2771G>A	XP_016865290.1:p.Arg924His
XM_017009802.1:c.2771G>A	XP_016865291.1:p.Arg924His
XM_017009803.1:c.1316G>A	XP_016865292.1:p.Arg439His
XR_001742236.2:n.3147G>A
NM_007118.4:c.2771G>A MANE Select	NP_009049.2:p.Arg924His
NR_134469.2:n.3155G>A