Canonical Allele Identifier: CA481951114

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116450610A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012805A>T , CM000674.2:g.116012805A>T	GRCh38
NC_000012.11:g.116450610A>T , CM000674.1:g.116450610A>T	GRCh37
NC_000012.10:g.114934993A>T	NCBI36
NG_023366.1:g.269382T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.1272T>A MANE Select	ENSP00000281928.3:p.Ser424=
ENST00000548743.2:c.1242T>A	ENSP00000448553.2:p.Ser414=
ENST00000549786.2:c.700T>A
ENST00000647567.1:c.1179T>A	ENSP00000497136.1:p.Ser393=
ENST00000648737.1:n.1036T>A
ENST00000650226.1:c.1272T>A	ENSP00000496981.1:p.Ser424=
ENST00000281928.7:c.1272T>A	ENSP00000281928.3:p.Ser424=
NM_015335.4:c.1272T>A	NP_056150.1:p.Ser424=
XM_011538080.1:c.1272T>A	XP_011536382.1:p.Ser424=
XM_011538081.1:c.1272T>A	XP_011536383.1:p.Ser424=
XM_011538082.1:c.1242T>A	XP_011536384.1:p.Ser414=
XM_011538080.2:c.1272T>A	XP_011536382.1:p.Ser424=
XM_011538081.2:c.1272T>A	XP_011536383.1:p.Ser424=
XM_011538082.2:c.1242T>A	XP_011536384.1:p.Ser414=
XM_017019090.1:c.1272T>A	XP_016874579.1:p.Ser424=
NM_015335.5:c.1272T>A MANE Select	NP_056150.1:p.Ser424=