Canonical Allele Identifier: CA367287969

Gene: CDK13

Linked Data

• gnomAD v4: 7-39999368-G-T
• MyVariant Identifiers: chr7:g.40038967G>T (hg19) ; chr7:g.39999368G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999368G>T , CM000669.2:g.39999368G>T	GRCh38
NC_000007.13:g.40038967G>T , CM000669.1:g.40038967G>T	GRCh37
NC_000007.12:g.40005492G>T	NCBI36
NG_052965.1:g.54009G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181839.10:c.2050G>T MANE Select	ENSP00000181839.4:p.Gly684Trp
ENST00000340829.10:c.2050G>T	ENSP00000340557.5:p.Gly684Trp
ENST00000484589.2:c.602G>T
ENST00000642213.1:n.532G>T
ENST00000642660.1:n.930G>T
ENST00000643859.1:c.941G>T
ENST00000643915.1:c.364G>T	ENSP00000496187.1:p.Gly122Trp
ENST00000646039.1:c.1390G>T	ENSP00000494168.1:p.Gly464Trp
ENST00000646437.1:c.684G>T
ENST00000647453.1:n.1119G>T
ENST00000647518.1:n.3887G>T
ENST00000181839.8:c.2050G>T	ENSP00000181839.4:p.Gly684Trp
ENST00000340829.9:c.2050G>T	ENSP00000340557.5:p.Gly684Trp
ENST00000484589.1:n.602G>T
ENST00000611390.1:c.208G>T	ENSP00000484610.1:p.Gly70Trp
ENST00000613626.4:c.208G>T	ENSP00000480835.1:p.Gly70Trp
NM_003718.4:c.2050G>T	NP_003709.3:p.Gly684Trp
NM_031267.3:c.2050G>T	NP_112557.2:p.Gly684Trp
XM_011515597.1:c.2050G>T	XP_011513899.1:p.Gly684Trp
XM_011515598.1:c.2050G>T	XP_011513900.1:p.Gly684Trp
XM_011515597.3:c.2050G>T	XP_011513899.1:p.Gly684Trp
XM_017012750.2:c.2050G>T	XP_016868239.1:p.Gly684Trp
XM_017012751.2:c.2050G>T	XP_016868240.1:p.Gly684Trp
NM_003718.5:c.2050G>T MANE Select	NP_003709.3:p.Gly684Trp