Canonical Allele Identifier: CA481942761

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115968976A>T , CM000674.2:g.115968976A>T	GRCh38
NC_000012.11:g.116406781A>T , CM000674.1:g.116406781A>T	GRCh37
NC_000012.10:g.114891164A>T	NCBI36
NG_023366.1:g.313211T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015335.5:c.6189T>A MANE Select	NP_056150.1:p.Ser2063=
ENST00000281928.9:c.6189T>A MANE Select	ENSP00000281928.3:p.Ser2063=
NM_015335.4:c.6189T>A	NP_056150.1:p.Ser2063=
ENST00000281928.7:c.6189T>A	ENSP00000281928.3:p.Ser2063=
ENST00000548784.2:n.2403T>A
ENST00000648379.1:n.4557T>A
ENST00000648737.1:n.5953T>A
ENST00000648825.1:n.4374T>A
ENST00000648916.1:n.4200T>A
ENST00000649607.1:c.4373T>A
ENST00000649775.1:c.2556+1618T>A
ENST00000650226.1:c.6225T>A	ENSP00000496981.1:p.Ser2075=
XM_011538080.1:c.6225T>A	XP_011536382.1:p.Ser2075=
XM_011538080.2:c.6225T>A	XP_011536382.1:p.Ser2075=
XM_011538081.1:c.6222T>A	XP_011536383.1:p.Ser2074=
XM_011538081.2:c.6222T>A	XP_011536383.1:p.Ser2074=
XM_011538082.1:c.6195T>A	XP_011536384.1:p.Ser2065=
XM_011538082.2:c.6195T>A	XP_011536384.1:p.Ser2065=
XM_017019090.1:c.6186T>A	XP_016874579.1:p.Ser2062=