Canonical Allele Identifier: CA386879240

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975633T>C , CM000674.2:g.115975633T>C	GRCh38
NC_000012.11:g.116413438T>C , CM000674.1:g.116413438T>C	GRCh37
NC_000012.10:g.114897821T>C	NCBI36
NG_023366.1:g.306554A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015335.5:c.5470A>G MANE Select	NP_056150.1:p.Asn1824Asp
ENST00000281928.9:c.5470A>G MANE Select	ENSP00000281928.3:p.Asn1824Asp
NM_015335.4:c.5470A>G	NP_056150.1:p.Asn1824Asp
ENST00000281928.7:c.5470A>G	ENSP00000281928.3:p.Asn1824Asp
ENST00000548694.1:n.259A>G
ENST00000548694.2:n.259A>G
ENST00000552447.1:c.47A>G
ENST00000648379.1:n.3838A>G
ENST00000648737.1:n.5234A>G
ENST00000648825.1:n.3655A>G
ENST00000648916.1:n.3481A>G
ENST00000649607.1:c.3654A>G
ENST00000649775.1:c.1959A>G
ENST00000650226.1:c.5470A>G	ENSP00000496981.1:p.Asn1824Asp
XM_011538080.1:c.5470A>G	XP_011536382.1:p.Asn1824Asp
XM_011538080.2:c.5470A>G	XP_011536382.1:p.Asn1824Asp
XM_011538081.1:c.5467A>G	XP_011536383.1:p.Asn1823Asp
XM_011538081.2:c.5467A>G	XP_011536383.1:p.Asn1823Asp
XM_011538082.1:c.5440A>G	XP_011536384.1:p.Asn1814Asp
XM_011538082.2:c.5440A>G	XP_011536384.1:p.Asn1814Asp
XM_017019090.1:c.5467A>G	XP_016874579.1:p.Asn1823Asp