Canonical Allele Identifier: CA481945907

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420219A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982414A>C , CM000674.2:g.115982414A>C	GRCh38
NC_000012.11:g.116420219A>C , CM000674.1:g.116420219A>C	GRCh37
NC_000012.10:g.114904602A>C	NCBI36
NG_023366.1:g.299773T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5145T>G MANE Select	ENSP00000281928.3:p.Pro1715=
ENST00000549786.2:c.4573T>G
ENST00000648379.1:n.3513T>G
ENST00000648737.1:n.4909T>G
ENST00000648825.1:n.1885T>G
ENST00000648916.1:n.3156T>G
ENST00000649146.1:n.2388T>G
ENST00000649607.1:c.3329T>G
ENST00000649775.1:c.1634T>G
ENST00000650226.1:c.5145T>G	ENSP00000496981.1:p.Pro1715=
ENST00000281928.7:c.5145T>G	ENSP00000281928.3:p.Pro1715=
ENST00000549786.1:c.509T>G
ENST00000552340.1:c.177T>G	ENSP00000449876.1:p.Pro59=
NM_015335.4:c.5145T>G	NP_056150.1:p.Pro1715=
XM_011538080.1:c.5145T>G	XP_011536382.1:p.Pro1715=
XM_011538081.1:c.5142T>G	XP_011536383.1:p.Pro1714=
XM_011538082.1:c.5115T>G	XP_011536384.1:p.Pro1705=
XM_011538080.2:c.5145T>G	XP_011536382.1:p.Pro1715=
XM_011538081.2:c.5142T>G	XP_011536383.1:p.Pro1714=
XM_011538082.2:c.5115T>G	XP_011536384.1:p.Pro1705=
XM_017019090.1:c.5142T>G	XP_016874579.1:p.Pro1714=
NM_015335.5:c.5145T>G MANE Select	NP_056150.1:p.Pro1715=