Canonical Allele Identifier: CA3206604

Gene: TRIO

Linked Data

• ClinVar Variation Id: 3058768
• ClinVar RCV Id: RCV004554565
• dbSNP Id: rs368866246
• ExAC: 5:14406676 C / T
• gnomAD v2: 5-14406676-C-T
• gnomAD v3: 5-14406567-C-T
• gnomAD v4: 5-14406567-C-T
• MyVariant Identifiers: chr5:g.14406676C>T (hg19) ; chr5:g.14406567C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14406567C>T , CM000667.2:g.14406567C>T	GRCh38
NC_000005.9:g.14406676C>T , CM000667.1:g.14406676C>T	GRCh37
NC_000005.8:g.14459676C>T	NCBI36
NG_052962.1:g.267866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698541.1:c.4860-6C>T	ENSP00000513786.1:n.4860-6C>T
ENST00000344204.9:c.4860-6C>T MANE Select	ENSP00000339299.4:n.4860-6C>T
ENST00000344204.8:c.4860-6C>T	ENSP00000339299.4:n.4860-6C>T
ENST00000509354.1:n.293-6C>T
ENST00000512070.6:c.4683-6C>T	ENSP00000421555.2:n.4683-6C>T
ENST00000512303.1:n.354C>T
ENST00000513206.5:c.4059-6C>T	ENSP00000426342.2:n.4059-6C>T
ENST00000515144.5:n.3778-6C>T
NM_007118.2:c.4860-6C>T	NP_009049.2:n.4860-6C>T
XM_011514107.1:c.4797-6C>T	XP_011512409.1:n.4797-6C>T
XM_011514108.1:c.4743-6C>T	XP_011512410.1:n.4743-6C>T
XM_011514109.1:c.4713-6C>T	XP_011512411.1:n.4713-6C>T
XM_011514110.1:c.4683-6C>T	XP_011512412.1:n.4683-6C>T
XM_011514111.1:c.4683-6C>T	XP_011512413.1:n.4683-6C>T
XM_011514112.1:c.3405-6C>T	XP_011512414.1:n.3405-6C>T
XM_011514113.1:c.4860-6C>T	XP_011512415.1:n.4860-6C>T
XR_241714.1:n.4878-6C>T
NM_007118.3:c.4860-6C>T	NP_009049.2:n.4860-6C>T
NR_134469.1:n.4884-6C>T
XM_011514107.2:c.4797-6C>T	XP_011512409.1:n.4797-6C>T
XM_011514109.3:c.4713-6C>T	XP_011512411.1:n.4713-6C>T
XM_011514110.3:c.4683-6C>T	XP_011512412.1:n.4683-6C>T
XM_017009801.1:c.4860-6C>T	XP_016865290.1:n.4860-6C>T
XM_017009802.1:c.4860-6C>T	XP_016865291.1:n.4860-6C>T
XM_017009803.1:c.3405-6C>T	XP_016865292.1:n.3405-6C>T
XR_001742236.2:n.5236-6C>T
NM_007118.4:c.4860-6C>T MANE Select	NP_009049.2:n.4860-6C>T
NR_134469.2:n.5244-6C>T