Canonical Allele Identifier: CA386881179

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420275T>G (hg19) ; chr12:g.115982470T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982470T>G , CM000674.2:g.115982470T>G	GRCh38
NC_000012.11:g.116420275T>G , CM000674.1:g.116420275T>G	GRCh37
NC_000012.10:g.114904658T>G	NCBI36
NG_023366.1:g.299717A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5089A>C MANE Select	ENSP00000281928.3:p.Asn1697His
ENST00000549786.2:c.4517A>C
ENST00000648379.1:n.3457A>C
ENST00000648737.1:n.4853A>C
ENST00000648825.1:n.1829A>C
ENST00000648916.1:n.3100A>C
ENST00000649146.1:n.2332A>C
ENST00000649607.1:c.3273A>C
ENST00000649775.1:c.1578A>C
ENST00000650226.1:c.5089A>C	ENSP00000496981.1:p.Asn1697His
ENST00000281928.7:c.5089A>C	ENSP00000281928.3:p.Asn1697His
ENST00000549786.1:c.453A>C
ENST00000552340.1:c.121A>C	ENSP00000449876.1:p.Asn41His
NM_015335.4:c.5089A>C	NP_056150.1:p.Asn1697His
XM_011538080.1:c.5089A>C	XP_011536382.1:p.Asn1697His
XM_011538081.1:c.5086A>C	XP_011536383.1:p.Asn1696His
XM_011538082.1:c.5059A>C	XP_011536384.1:p.Asn1687His
XM_011538080.2:c.5089A>C	XP_011536382.1:p.Asn1697His
XM_011538081.2:c.5086A>C	XP_011536383.1:p.Asn1696His
XM_011538082.2:c.5059A>C	XP_011536384.1:p.Asn1687His
XM_017019090.1:c.5086A>C	XP_016874579.1:p.Asn1696His
NM_015335.5:c.5089A>C MANE Select	NP_056150.1:p.Asn1697His