Canonical Allele Identifier: CA481949468

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116434818A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997013A>G , CM000674.2:g.115997013A>G	GRCh38
NC_000012.11:g.116434818A>G , CM000674.1:g.116434818A>G	GRCh37
NC_000012.10:g.114919201A>G	NCBI36
NG_023366.1:g.285174T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2787T>C MANE Select	ENSP00000281928.3:p.Ile929=
ENST00000548743.2:c.2757T>C	ENSP00000448553.2:p.Ile919=
ENST00000549786.2:c.2215T>C
ENST00000647927.1:n.3160T>C
ENST00000648173.1:n.1582T>C
ENST00000648379.1:n.1155T>C
ENST00000648737.1:n.2551T>C
ENST00000648916.1:n.798T>C
ENST00000649607.1:c.971T>C
ENST00000650226.1:c.2787T>C	ENSP00000496981.1:p.Ile929=
ENST00000281928.7:c.2787T>C	ENSP00000281928.3:p.Ile929=
NM_015335.4:c.2787T>C	NP_056150.1:p.Ile929=
XM_011538080.1:c.2787T>C	XP_011536382.1:p.Ile929=
XM_011538081.1:c.2784T>C	XP_011536383.1:p.Ile928=
XM_011538082.1:c.2757T>C	XP_011536384.1:p.Ile919=
XM_011538080.2:c.2787T>C	XP_011536382.1:p.Ile929=
XM_011538081.2:c.2784T>C	XP_011536383.1:p.Ile928=
XM_011538082.2:c.2757T>C	XP_011536384.1:p.Ile919=
XM_017019090.1:c.2784T>C	XP_016874579.1:p.Ile928=
NM_015335.5:c.2787T>C MANE Select	NP_056150.1:p.Ile929=