Canonical Allele Identifier: CA481944675

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413004A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975199A>T , CM000674.2:g.115975199A>T	GRCh38
NC_000012.11:g.116413004A>T , CM000674.1:g.116413004A>T	GRCh37
NC_000012.10:g.114897387A>T	NCBI36
NG_023366.1:g.306988T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5703T>A MANE Select	ENSP00000281928.3:p.Leu1901=
ENST00000548694.2:n.693T>A
ENST00000648379.1:n.4071T>A
ENST00000648737.1:n.5467T>A
ENST00000648825.1:n.3888T>A
ENST00000648916.1:n.3714T>A
ENST00000649607.1:c.3887T>A
ENST00000649775.1:c.2192T>A
ENST00000650226.1:c.5739T>A	ENSP00000496981.1:p.Leu1913=
ENST00000281928.7:c.5703T>A	ENSP00000281928.3:p.Leu1901=
ENST00000548694.1:n.693T>A
ENST00000552447.1:c.316T>A
NM_015335.4:c.5703T>A	NP_056150.1:p.Leu1901=
XM_011538080.1:c.5739T>A	XP_011536382.1:p.Leu1913=
XM_011538081.1:c.5736T>A	XP_011536383.1:p.Leu1912=
XM_011538082.1:c.5709T>A	XP_011536384.1:p.Leu1903=
XM_011538080.2:c.5739T>A	XP_011536382.1:p.Leu1913=
XM_011538081.2:c.5736T>A	XP_011536383.1:p.Leu1912=
XM_011538082.2:c.5709T>A	XP_011536384.1:p.Leu1903=
XM_017019090.1:c.5700T>A	XP_016874579.1:p.Leu1900=
NM_015335.5:c.5703T>A MANE Select	NP_056150.1:p.Leu1901=