Canonical Allele Identifier: CA386881127

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420253A>T (hg19) ; chr12:g.115982448A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982448A>T , CM000674.2:g.115982448A>T	GRCh38
NC_000012.11:g.116420253A>T , CM000674.1:g.116420253A>T	GRCh37
NC_000012.10:g.114904636A>T	NCBI36
NG_023366.1:g.299739T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5111T>A MANE Select	ENSP00000281928.3:p.Met1704Lys
ENST00000549786.2:c.4539T>A
ENST00000648379.1:n.3479T>A
ENST00000648737.1:n.4875T>A
ENST00000648825.1:n.1851T>A
ENST00000648916.1:n.3122T>A
ENST00000649146.1:n.2354T>A
ENST00000649607.1:c.3295T>A
ENST00000649775.1:c.1600T>A
ENST00000650226.1:c.5111T>A	ENSP00000496981.1:p.Met1704Lys
ENST00000281928.7:c.5111T>A	ENSP00000281928.3:p.Met1704Lys
ENST00000549786.1:c.475T>A
ENST00000552340.1:c.143T>A	ENSP00000449876.1:p.Met48Lys
NM_015335.4:c.5111T>A	NP_056150.1:p.Met1704Lys
XM_011538080.1:c.5111T>A	XP_011536382.1:p.Met1704Lys
XM_011538081.1:c.5108T>A	XP_011536383.1:p.Met1703Lys
XM_011538082.1:c.5081T>A	XP_011536384.1:p.Met1694Lys
XM_011538080.2:c.5111T>A	XP_011536382.1:p.Met1704Lys
XM_011538081.2:c.5108T>A	XP_011536383.1:p.Met1703Lys
XM_011538082.2:c.5081T>A	XP_011536384.1:p.Met1694Lys
XM_017019090.1:c.5108T>A	XP_016874579.1:p.Met1703Lys
NM_015335.5:c.5111T>A MANE Select	NP_056150.1:p.Met1704Lys