Canonical Allele Identifier: CA386876482

Gene: MED13L

Linked Data

• gnomAD v4: 12-115970720-G-T
• MyVariant Identifiers: chr12:g.116408525G>T (hg19) ; chr12:g.115970720G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970720G>T , CM000674.2:g.115970720G>T	GRCh38
NC_000012.11:g.116408525G>T , CM000674.1:g.116408525G>T	GRCh37
NC_000012.10:g.114892908G>T	NCBI36
NG_023366.1:g.311467C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5941C>A MANE Select	ENSP00000281928.3:p.Gln1981Lys
ENST00000548784.2:n.2155C>A
ENST00000648379.1:n.4309C>A
ENST00000648737.1:n.5705C>A
ENST00000648825.1:n.4126C>A
ENST00000648916.1:n.3952C>A
ENST00000649607.1:c.4125C>A
ENST00000649775.1:c.2430C>A
ENST00000650226.1:c.5977C>A	ENSP00000496981.1:p.Gln1993Lys
ENST00000281928.7:c.5941C>A	ENSP00000281928.3:p.Gln1981Lys
ENST00000548784.1:n.439C>A
ENST00000552447.1:c.554C>A
NM_015335.4:c.5941C>A	NP_056150.1:p.Gln1981Lys
XM_011538080.1:c.5977C>A	XP_011536382.1:p.Gln1993Lys
XM_011538081.1:c.5974C>A	XP_011536383.1:p.Gln1992Lys
XM_011538082.1:c.5947C>A	XP_011536384.1:p.Gln1983Lys
XM_011538080.2:c.5977C>A	XP_011536382.1:p.Gln1993Lys
XM_011538081.2:c.5974C>A	XP_011536383.1:p.Gln1992Lys
XM_011538082.2:c.5947C>A	XP_011536384.1:p.Gln1983Lys
XM_017019090.1:c.5938C>A	XP_016874579.1:p.Gln1980Lys
NM_015335.5:c.5941C>A MANE Select	NP_056150.1:p.Gln1981Lys