Canonical Allele Identifier: CA386876153

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408435T>A (hg19) ; chr12:g.115970630T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970630T>A , CM000674.2:g.115970630T>A	GRCh38
NC_000012.11:g.116408435T>A , CM000674.1:g.116408435T>A	GRCh37
NC_000012.10:g.114892818T>A	NCBI36
NG_023366.1:g.311557A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6031A>T MANE Select	ENSP00000281928.3:p.Asn2011Tyr
ENST00000548784.2:n.2245A>T
ENST00000648379.1:n.4399A>T
ENST00000648737.1:n.5795A>T
ENST00000648825.1:n.4216A>T
ENST00000648916.1:n.4042A>T
ENST00000649607.1:c.4215A>T
ENST00000649775.1:c.2520A>T
ENST00000650226.1:c.6067A>T	ENSP00000496981.1:p.Asn2023Tyr
ENST00000281928.7:c.6031A>T	ENSP00000281928.3:p.Asn2011Tyr
NM_015335.4:c.6031A>T	NP_056150.1:p.Asn2011Tyr
XM_011538080.1:c.6067A>T	XP_011536382.1:p.Asn2023Tyr
XM_011538081.1:c.6064A>T	XP_011536383.1:p.Asn2022Tyr
XM_011538082.1:c.6037A>T	XP_011536384.1:p.Asn2013Tyr
XM_011538080.2:c.6067A>T	XP_011536382.1:p.Asn2023Tyr
XM_011538081.2:c.6064A>T	XP_011536383.1:p.Asn2022Tyr
XM_011538082.2:c.6037A>T	XP_011536384.1:p.Asn2013Tyr
XM_017019090.1:c.6028A>T	XP_016874579.1:p.Asn2010Tyr
NM_015335.5:c.6031A>T MANE Select	NP_056150.1:p.Asn2011Tyr