Canonical Allele Identifier: CA515376470

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs724159975
• gnomAD v4: 22-50224196-G-T
• MyVariant Identifiers: chr22:g.50662625G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224196G>T , CM000684.2:g.50224196G>T	GRCh38
NC_000022.10:g.50662625G>T , CM000684.1:g.50662625G>T	GRCh37
NC_000022.9:g.49004752G>T	NCBI36
NG_032160.1:g.25776C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248846.10:c.2215C>A MANE Select	ENSP00000248846.5:p.Arg739=
ENST00000248846.9:c.2215C>A	ENSP00000248846.5:p.Arg739=
ENST00000439308.6:c.2215C>A	ENSP00000397387.2:p.Arg739=
ENST00000473946.1:n.524C>A
ENST00000489511.5:n.232C>A
ENST00000491449.5:n.522C>A
ENST00000498611.5:n.2748C>A
NM_020461.3:c.2215C>A	NP_065194.2:p.Arg739=
XR_938347.1:n.2780C>A
XR_938348.1:n.2780C>A
XR_001755343.2:n.2784C>A
XR_001755344.2:n.2784C>A
XR_002958720.1:n.2784C>A
XR_938347.2:n.2784C>A
NM_020461.4:c.2215C>A MANE Select	NP_065194.3:p.Arg739=