Canonical Allele Identifier: CA244141332

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2066943
• ClinVar RCV Id: RCV002943667
• dbSNP Id: rs748488755
• MyVariant Identifiers: chr12:g.116420340G>A (hg19) ; chr12:g.115982535G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982535G>A , CM000674.2:g.115982535G>A	GRCh38
NC_000012.11:g.116420340G>A , CM000674.1:g.116420340G>A	GRCh37
NC_000012.10:g.114904723G>A	NCBI36
NG_023366.1:g.299652C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5024C>T MANE Select	ENSP00000281928.3:p.Pro1675Leu
ENST00000549786.2:c.4452C>T
ENST00000648379.1:n.3392C>T
ENST00000648737.1:n.4788C>T
ENST00000648825.1:n.1764C>T
ENST00000648916.1:n.3035C>T
ENST00000649146.1:n.2267C>T
ENST00000649607.1:c.3208C>T
ENST00000649775.1:c.1513C>T
ENST00000650226.1:c.5024C>T	ENSP00000496981.1:p.Pro1675Leu
ENST00000281928.7:c.5024C>T	ENSP00000281928.3:p.Pro1675Leu
ENST00000549786.1:c.388C>T
ENST00000552340.1:c.56C>T	ENSP00000449876.1:p.Pro19Leu
NM_015335.4:c.5024C>T	NP_056150.1:p.Pro1675Leu
XM_011538080.1:c.5024C>T	XP_011536382.1:p.Pro1675Leu
XM_011538081.1:c.5021C>T	XP_011536383.1:p.Pro1674Leu
XM_011538082.1:c.4994C>T	XP_011536384.1:p.Pro1665Leu
XM_011538080.2:c.5024C>T	XP_011536382.1:p.Pro1675Leu
XM_011538081.2:c.5021C>T	XP_011536383.1:p.Pro1674Leu
XM_011538082.2:c.4994C>T	XP_011536384.1:p.Pro1665Leu
XM_017019090.1:c.5021C>T	XP_016874579.1:p.Pro1674Leu
NM_015335.5:c.5024C>T MANE Select	NP_056150.1:p.Pro1675Leu