Canonical Allele Identifier: CA386887769

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2636179
• ClinVar RCV Id: RCV004534370
• MyVariant Identifiers: chr12:g.116429334C>T (hg19) ; chr12:g.115991529C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991529C>T , CM000674.2:g.115991529C>T	GRCh38
NC_000012.11:g.116429334C>T , CM000674.1:g.116429334C>T	GRCh37
NC_000012.10:g.114913717C>T	NCBI36
NG_023366.1:g.290658G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3425G>A MANE Select	ENSP00000281928.3:p.Gly1142Glu
ENST00000549786.2:c.2853G>A
ENST00000648379.1:n.1793G>A
ENST00000648737.1:n.3189G>A
ENST00000648825.1:n.165G>A
ENST00000648916.1:n.1436G>A
ENST00000649607.1:c.1609G>A
ENST00000650226.1:c.3425G>A	ENSP00000496981.1:p.Gly1142Glu
ENST00000281928.7:c.3425G>A	ENSP00000281928.3:p.Gly1142Glu
NM_015335.4:c.3425G>A	NP_056150.1:p.Gly1142Glu
XM_011538080.1:c.3425G>A	XP_011536382.1:p.Gly1142Glu
XM_011538081.1:c.3422G>A	XP_011536383.1:p.Gly1141Glu
XM_011538082.1:c.3395G>A	XP_011536384.1:p.Gly1132Glu
XM_011538080.2:c.3425G>A	XP_011536382.1:p.Gly1142Glu
XM_011538081.2:c.3422G>A	XP_011536383.1:p.Gly1141Glu
XM_011538082.2:c.3395G>A	XP_011536384.1:p.Gly1132Glu
XM_017019090.1:c.3422G>A	XP_016874579.1:p.Gly1141Glu
NM_015335.5:c.3425G>A MANE Select	NP_056150.1:p.Gly1142Glu