Canonical Allele Identifier: CA481949636

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116435004A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997199A>G , CM000674.2:g.115997199A>G	GRCh38
NC_000012.11:g.116435004A>G , CM000674.1:g.116435004A>G	GRCh37
NC_000012.10:g.114919387A>G	NCBI36
NG_023366.1:g.284988T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2601T>C MANE Select	ENSP00000281928.3:p.Thr867=
ENST00000548743.2:c.2571T>C	ENSP00000448553.2:p.Thr857=
ENST00000549786.2:c.2029T>C
ENST00000647927.1:n.2974T>C
ENST00000648173.1:n.1396T>C
ENST00000648379.1:n.969T>C
ENST00000648737.1:n.2365T>C
ENST00000648916.1:n.612T>C
ENST00000649607.1:c.785T>C
ENST00000650226.1:c.2601T>C	ENSP00000496981.1:p.Thr867=
ENST00000281928.7:c.2601T>C	ENSP00000281928.3:p.Thr867=
NM_015335.4:c.2601T>C	NP_056150.1:p.Thr867=
XM_011538080.1:c.2601T>C	XP_011536382.1:p.Thr867=
XM_011538081.1:c.2598T>C	XP_011536383.1:p.Thr866=
XM_011538082.1:c.2571T>C	XP_011536384.1:p.Thr857=
XM_011538080.2:c.2601T>C	XP_011536382.1:p.Thr867=
XM_011538081.2:c.2598T>C	XP_011536383.1:p.Thr866=
XM_011538082.2:c.2571T>C	XP_011536384.1:p.Thr857=
XM_017019090.1:c.2598T>C	XP_016874579.1:p.Thr866=
NM_015335.5:c.2601T>C MANE Select	NP_056150.1:p.Thr867=