Canonical Allele Identifier: CA386878846

Gene: MED13L

Linked Data

• gnomAD v4: 12-115975521-G-A
• MyVariant Identifiers: chr12:g.116413326G>A (hg19) ; chr12:g.115975521G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975521G>A , CM000674.2:g.115975521G>A	GRCh38
NC_000012.11:g.116413326G>A , CM000674.1:g.116413326G>A	GRCh37
NC_000012.10:g.114897709G>A	NCBI36
NG_023366.1:g.306666C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5582C>T MANE Select	ENSP00000281928.3:p.Pro1861Leu
ENST00000548694.2:n.371C>T
ENST00000648379.1:n.3950C>T
ENST00000648737.1:n.5346C>T
ENST00000648825.1:n.3767C>T
ENST00000648916.1:n.3593C>T
ENST00000649607.1:c.3766C>T
ENST00000649775.1:c.2071C>T
ENST00000650226.1:c.5582C>T	ENSP00000496981.1:p.Pro1861Leu
ENST00000281928.7:c.5582C>T	ENSP00000281928.3:p.Pro1861Leu
ENST00000548694.1:n.371C>T
ENST00000552447.1:c.159C>T
NM_015335.4:c.5582C>T	NP_056150.1:p.Pro1861Leu
XM_011538080.1:c.5582C>T	XP_011536382.1:p.Pro1861Leu
XM_011538081.1:c.5579C>T	XP_011536383.1:p.Pro1860Leu
XM_011538082.1:c.5552C>T	XP_011536384.1:p.Pro1851Leu
XM_011538080.2:c.5582C>T	XP_011536382.1:p.Pro1861Leu
XM_011538081.2:c.5579C>T	XP_011536383.1:p.Pro1860Leu
XM_011538082.2:c.5552C>T	XP_011536384.1:p.Pro1851Leu
XM_017019090.1:c.5579C>T	XP_016874579.1:p.Pro1860Leu
NM_015335.5:c.5582C>T MANE Select	NP_056150.1:p.Pro1861Leu