Canonical Allele Identifier: CA412184126

Gene: TUBGCP6

Linked Data

• MyVariant Identifiers: chr22:g.50659543T>A (hg19) ; chr22:g.50221114T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221114T>A , CM000684.2:g.50221114T>A	GRCh38
NC_000022.10:g.50659543T>A , CM000684.1:g.50659543T>A	GRCh37
NC_000022.9:g.49001670T>A	NCBI36
NG_032160.1:g.28858A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3245A>T MANE Select	ENSP00000248846.5:p.His1082Leu
ENST00000248846.9:c.3245A>T	ENSP00000248846.5:p.His1082Leu
ENST00000439308.6:c.3245A>T	ENSP00000397387.2:p.His1082Leu
ENST00000491449.5:n.1552A>T
ENST00000498611.5:n.3617+161A>T
NM_020461.3:c.3245A>T	NP_065194.2:p.His1082Leu
XR_938347.1:n.3810A>T
XR_938348.1:n.3049+914A>T
XR_001755343.2:n.3814A>T
XR_001755344.2:n.3814A>T
XR_002958720.1:n.3053+914A>T
XR_938347.2:n.3814A>T
NM_020461.4:c.3245A>T MANE Select	NP_065194.3:p.His1082Leu