Canonical Allele Identifier: CA386881346

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420352T>A (hg19) ; chr12:g.115982547T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982547T>A , CM000674.2:g.115982547T>A	GRCh38
NC_000012.11:g.116420352T>A , CM000674.1:g.116420352T>A	GRCh37
NC_000012.10:g.114904735T>A	NCBI36
NG_023366.1:g.299640A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5012A>T MANE Select	ENSP00000281928.3:p.His1671Leu
ENST00000549786.2:c.4440A>T
ENST00000648379.1:n.3380A>T
ENST00000648737.1:n.4776A>T
ENST00000648825.1:n.1752A>T
ENST00000648916.1:n.3023A>T
ENST00000649146.1:n.2255A>T
ENST00000649607.1:c.3196A>T
ENST00000649775.1:c.1501A>T
ENST00000650226.1:c.5012A>T	ENSP00000496981.1:p.His1671Leu
ENST00000281928.7:c.5012A>T	ENSP00000281928.3:p.His1671Leu
ENST00000549786.1:c.376A>T
ENST00000552340.1:c.44A>T	ENSP00000449876.1:p.His15Leu
NM_015335.4:c.5012A>T	NP_056150.1:p.His1671Leu
XM_011538080.1:c.5012A>T	XP_011536382.1:p.His1671Leu
XM_011538081.1:c.5009A>T	XP_011536383.1:p.His1670Leu
XM_011538082.1:c.4982A>T	XP_011536384.1:p.His1661Leu
XM_011538080.2:c.5012A>T	XP_011536382.1:p.His1671Leu
XM_011538081.2:c.5009A>T	XP_011536383.1:p.His1670Leu
XM_011538082.2:c.4982A>T	XP_011536384.1:p.His1661Leu
XM_017019090.1:c.5009A>T	XP_016874579.1:p.His1670Leu
NM_015335.5:c.5012A>T MANE Select	NP_056150.1:p.His1671Leu