Canonical Allele Identifier: CA386876675

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408569A>T (hg19) ; chr12:g.115970764A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970764A>T , CM000674.2:g.115970764A>T	GRCh38
NC_000012.11:g.116408569A>T , CM000674.1:g.116408569A>T	GRCh37
NC_000012.10:g.114892952A>T	NCBI36
NG_023366.1:g.311423T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5897T>A MANE Select	ENSP00000281928.3:p.Val1966Asp
ENST00000548694.2:n.887T>A
ENST00000548784.2:n.2111T>A
ENST00000648379.1:n.4265T>A
ENST00000648737.1:n.5661T>A
ENST00000648825.1:n.4082T>A
ENST00000648916.1:n.3908T>A
ENST00000649607.1:c.4081T>A
ENST00000649775.1:c.2386T>A
ENST00000650226.1:c.5933T>A	ENSP00000496981.1:p.Val1978Asp
ENST00000281928.7:c.5897T>A	ENSP00000281928.3:p.Val1966Asp
ENST00000548784.1:n.395T>A
ENST00000552447.1:c.510T>A
NM_015335.4:c.5897T>A	NP_056150.1:p.Val1966Asp
XM_011538080.1:c.5933T>A	XP_011536382.1:p.Val1978Asp
XM_011538081.1:c.5930T>A	XP_011536383.1:p.Val1977Asp
XM_011538082.1:c.5903T>A	XP_011536384.1:p.Val1968Asp
XM_011538080.2:c.5933T>A	XP_011536382.1:p.Val1978Asp
XM_011538081.2:c.5930T>A	XP_011536383.1:p.Val1977Asp
XM_011538082.2:c.5903T>A	XP_011536384.1:p.Val1968Asp
XM_017019090.1:c.5894T>A	XP_016874579.1:p.Val1965Asp
NM_015335.5:c.5897T>A MANE Select	NP_056150.1:p.Val1966Asp