Canonical Allele Identifier: CA6810583

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975632T>C , CM000674.2:g.115975632T>C	GRCh38
NC_000012.11:g.116413437T>C , CM000674.1:g.116413437T>C	GRCh37
NC_000012.10:g.114897820T>C	NCBI36
NG_023366.1:g.306555A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5471A>G MANE Select	ENSP00000281928.3:p.Asn1824Ser
ENST00000548694.2:n.260A>G
ENST00000648379.1:n.3839A>G
ENST00000648737.1:n.5235A>G
ENST00000648825.1:n.3656A>G
ENST00000648916.1:n.3482A>G
ENST00000649607.1:c.3655A>G
ENST00000649775.1:c.1960A>G
ENST00000650226.1:c.5471A>G	ENSP00000496981.1:p.Asn1824Ser
ENST00000281928.7:c.5471A>G	ENSP00000281928.3:p.Asn1824Ser
ENST00000548694.1:n.260A>G
ENST00000552447.1:c.48A>G
NM_015335.4:c.5471A>G	NP_056150.1:p.Asn1824Ser
XM_011538080.1:c.5471A>G	XP_011536382.1:p.Asn1824Ser
XM_011538081.1:c.5468A>G	XP_011536383.1:p.Asn1823Ser
XM_011538082.1:c.5441A>G	XP_011536384.1:p.Asn1814Ser
XM_011538080.2:c.5471A>G	XP_011536382.1:p.Asn1824Ser
XM_011538081.2:c.5468A>G	XP_011536383.1:p.Asn1823Ser
XM_011538082.2:c.5441A>G	XP_011536384.1:p.Asn1814Ser
XM_017019090.1:c.5468A>G	XP_016874579.1:p.Asn1823Ser
NM_015335.5:c.5471A>G MANE Select	NP_056150.1:p.Asn1824Ser