Canonical Allele Identifier: CA591144350

Gene: GLT6D1

Linked Data

• dbSNP Id: rs1449182718
• gnomAD v2: 9-138529683-C-T
• gnomAD v3: 9-135637837-C-T
• gnomAD v4: 9-135637837-C-T
• MyVariant Identifiers: chr9:g.138529683C>T (hg19) ; chr9:g.135637837C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135637837C>T , CM000671.2:g.135637837C>T	GRCh38
NC_000009.11:g.138529683C>T , CM000671.1:g.138529683C>T	GRCh37
NC_000009.10:g.137669504C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371763.6:c.71+1280G>A MANE Select	ENSP00000360829.1:n.71+1280G>A
ENST00000371763.5:c.71+1280G>A	ENSP00000360829.1:n.71+1280G>A
ENST00000613244.1:c.71+1280G>A	ENSP00000483037.1:n.71+1280G>A
NM_182974.2:c.71+1280G>A	NP_892019.2:n.71+1280G>A
XM_011518633.1:c.71+1280G>A	XP_011516935.1:n.71+1280G>A
XM_011518634.1:c.71+1280G>A	XP_011516936.1:n.71+1280G>A
XM_011518635.1:c.71+1280G>A	XP_011516937.1:n.71+1280G>A
XM_011518636.1:c.71+1280G>A	XP_011516938.1:n.71+1280G>A
XM_011518637.1:c.71+1280G>A	XP_011516939.1:n.71+1280G>A
XM_011518633.2:c.71+1280G>A	XP_011516935.1:n.71+1280G>A
XM_011518634.2:c.71+1280G>A	XP_011516936.1:n.71+1280G>A
XM_011518635.2:c.71+1280G>A	XP_011516937.1:n.71+1280G>A
XM_011518636.2:c.71+1280G>A	XP_011516938.1:n.71+1280G>A
XM_011518637.2:c.71+1280G>A	XP_011516939.1:n.71+1280G>A
XM_024447534.1:c.71+1280G>A	XP_024303302.1:n.71+1280G>A
NM_182974.3:c.71+1280G>A MANE Select	NP_892019.2:n.71+1280G>A