Canonical Allele Identifier: CA481949572

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116434944G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997139G>A , CM000674.2:g.115997139G>A	GRCh38
NC_000012.11:g.116434944G>A , CM000674.1:g.116434944G>A	GRCh37
NC_000012.10:g.114919327G>A	NCBI36
NG_023366.1:g.285048C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2661C>T MANE Select	ENSP00000281928.3:p.Ile887=
ENST00000548743.2:c.2631C>T	ENSP00000448553.2:p.Ile877=
ENST00000549786.2:c.2089C>T
ENST00000647927.1:n.3034C>T
ENST00000648173.1:n.1456C>T
ENST00000648379.1:n.1029C>T
ENST00000648737.1:n.2425C>T
ENST00000648916.1:n.672C>T
ENST00000649607.1:c.845C>T
ENST00000650226.1:c.2661C>T	ENSP00000496981.1:p.Ile887=
ENST00000281928.7:c.2661C>T	ENSP00000281928.3:p.Ile887=
NM_015335.4:c.2661C>T	NP_056150.1:p.Ile887=
XM_011538080.1:c.2661C>T	XP_011536382.1:p.Ile887=
XM_011538081.1:c.2658C>T	XP_011536383.1:p.Ile886=
XM_011538082.1:c.2631C>T	XP_011536384.1:p.Ile877=
XM_011538080.2:c.2661C>T	XP_011536382.1:p.Ile887=
XM_011538081.2:c.2658C>T	XP_011536383.1:p.Ile886=
XM_011538082.2:c.2631C>T	XP_011536384.1:p.Ile877=
XM_017019090.1:c.2658C>T	XP_016874579.1:p.Ile886=
NM_015335.5:c.2661C>T MANE Select	NP_056150.1:p.Ile887=