Canonical Allele Identifier: CA481949630

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116435001T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997196T>G , CM000674.2:g.115997196T>G	GRCh38
NC_000012.11:g.116435001T>G , CM000674.1:g.116435001T>G	GRCh37
NC_000012.10:g.114919384T>G	NCBI36
NG_023366.1:g.284991A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2604A>C MANE Select	ENSP00000281928.3:p.Pro868=
ENST00000548743.2:c.2574A>C	ENSP00000448553.2:p.Pro858=
ENST00000549786.2:c.2032A>C
ENST00000647927.1:n.2977A>C
ENST00000648173.1:n.1399A>C
ENST00000648379.1:n.972A>C
ENST00000648737.1:n.2368A>C
ENST00000648916.1:n.615A>C
ENST00000649607.1:c.788A>C
ENST00000650226.1:c.2604A>C	ENSP00000496981.1:p.Pro868=
ENST00000281928.7:c.2604A>C	ENSP00000281928.3:p.Pro868=
NM_015335.4:c.2604A>C	NP_056150.1:p.Pro868=
XM_011538080.1:c.2604A>C	XP_011536382.1:p.Pro868=
XM_011538081.1:c.2601A>C	XP_011536383.1:p.Pro867=
XM_011538082.1:c.2574A>C	XP_011536384.1:p.Pro858=
XM_011538080.2:c.2604A>C	XP_011536382.1:p.Pro868=
XM_011538081.2:c.2601A>C	XP_011536383.1:p.Pro867=
XM_011538082.2:c.2574A>C	XP_011536384.1:p.Pro858=
XM_017019090.1:c.2601A>C	XP_016874579.1:p.Pro867=
NM_015335.5:c.2604A>C MANE Select	NP_056150.1:p.Pro868=