Canonical Allele Identifier: CA481948832

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429642T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991837T>A , CM000674.2:g.115991837T>A	GRCh38
NC_000012.11:g.116429642T>A , CM000674.1:g.116429642T>A	GRCh37
NC_000012.10:g.114914025T>A	NCBI36
NG_023366.1:g.290350A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3117A>T MANE Select	ENSP00000281928.3:p.Pro1039=
ENST00000548743.2:c.3087A>T	ENSP00000448553.2:p.Pro1029=
ENST00000549786.2:c.2545A>T
ENST00000648173.1:n.1912A>T
ENST00000648379.1:n.1485A>T
ENST00000648737.1:n.2881A>T
ENST00000648916.1:n.1128A>T
ENST00000649607.1:c.1301A>T
ENST00000650226.1:c.3117A>T	ENSP00000496981.1:p.Pro1039=
ENST00000281928.7:c.3117A>T	ENSP00000281928.3:p.Pro1039=
NM_015335.4:c.3117A>T	NP_056150.1:p.Pro1039=
XM_011538080.1:c.3117A>T	XP_011536382.1:p.Pro1039=
XM_011538081.1:c.3114A>T	XP_011536383.1:p.Pro1038=
XM_011538082.1:c.3087A>T	XP_011536384.1:p.Pro1029=
XM_011538080.2:c.3117A>T	XP_011536382.1:p.Pro1039=
XM_011538081.2:c.3114A>T	XP_011536383.1:p.Pro1038=
XM_011538082.2:c.3087A>T	XP_011536384.1:p.Pro1029=
XM_017019090.1:c.3114A>T	XP_016874579.1:p.Pro1038=
NM_015335.5:c.3117A>T MANE Select	NP_056150.1:p.Pro1039=