Canonical Allele Identifier: CA386878837

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413323T>A (hg19) ; chr12:g.115975518T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975518T>A , CM000674.2:g.115975518T>A	GRCh38
NC_000012.11:g.116413323T>A , CM000674.1:g.116413323T>A	GRCh37
NC_000012.10:g.114897706T>A	NCBI36
NG_023366.1:g.306669A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5585A>T MANE Select	ENSP00000281928.3:p.Asn1862Ile
ENST00000548694.2:n.374A>T
ENST00000648379.1:n.3953A>T
ENST00000648737.1:n.5349A>T
ENST00000648825.1:n.3770A>T
ENST00000648916.1:n.3596A>T
ENST00000649607.1:c.3769A>T
ENST00000649775.1:c.2074A>T
ENST00000650226.1:c.5585A>T	ENSP00000496981.1:p.Asn1862Ile
ENST00000281928.7:c.5585A>T	ENSP00000281928.3:p.Asn1862Ile
ENST00000548694.1:n.374A>T
ENST00000552447.1:c.162A>T
NM_015335.4:c.5585A>T	NP_056150.1:p.Asn1862Ile
XM_011538080.1:c.5585A>T	XP_011536382.1:p.Asn1862Ile
XM_011538081.1:c.5582A>T	XP_011536383.1:p.Asn1861Ile
XM_011538082.1:c.5555A>T	XP_011536384.1:p.Asn1852Ile
XM_011538080.2:c.5585A>T	XP_011536382.1:p.Asn1862Ile
XM_011538081.2:c.5582A>T	XP_011536383.1:p.Asn1861Ile
XM_011538082.2:c.5555A>T	XP_011536384.1:p.Asn1852Ile
XM_017019090.1:c.5582A>T	XP_016874579.1:p.Asn1861Ile
NM_015335.5:c.5585A>T MANE Select	NP_056150.1:p.Asn1862Ile