Canonical Allele Identifier: CA412184250

Gene: TUBGCP6

Linked Data

• MyVariant Identifiers: chr22:g.50659566C>G (hg19) ; chr22:g.50221137C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221137C>G , CM000684.2:g.50221137C>G	GRCh38
NC_000022.10:g.50659566C>G , CM000684.1:g.50659566C>G	GRCh37
NC_000022.9:g.49001693C>G	NCBI36
NG_032160.1:g.28835G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3222G>C MANE Select	ENSP00000248846.5:p.Gln1074His
ENST00000248846.9:c.3222G>C	ENSP00000248846.5:p.Gln1074His
ENST00000439308.6:c.3222G>C	ENSP00000397387.2:p.Gln1074His
ENST00000491449.5:n.1529G>C
ENST00000498611.5:n.3617+138G>C
NM_020461.3:c.3222G>C	NP_065194.2:p.Gln1074His
XR_938347.1:n.3787G>C
XR_938348.1:n.3049+891G>C
XR_001755343.2:n.3791G>C
XR_001755344.2:n.3791G>C
XR_002958720.1:n.3053+891G>C
XR_938347.2:n.3791G>C
NM_020461.4:c.3222G>C MANE Select	NP_065194.3:p.Gln1074His