Canonical Allele Identifier: CA2065396060

Gene: MED13L

Linked Data

• dbSNP Id: rs1592929824

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115996775T>G , CM000674.2:g.115996775T>G	GRCh38
NC_000012.11:g.116434580T>G , CM000674.1:g.116434580T>G	GRCh37
NC_000012.10:g.114918963T>G	NCBI36
NG_023366.1:g.285412A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2791-94A>C MANE Select	ENSP00000281928.3:n.2791-94A>C
ENST00000548743.2:c.2761-94A>C	ENSP00000448553.2:n.2761-94A>C
ENST00000549786.2:c.2219-94A>C
ENST00000647927.1:n.3164-94A>C
ENST00000648173.1:n.1586-94A>C
ENST00000648379.1:n.1159-94A>C
ENST00000648737.1:n.2555-94A>C
ENST00000648916.1:n.802-94A>C
ENST00000649607.1:c.975-94A>C
ENST00000650226.1:c.2791-94A>C	ENSP00000496981.1:n.2791-94A>C
ENST00000281928.7:c.2791-94A>C	ENSP00000281928.3:n.2791-94A>C
NM_015335.4:c.2791-94A>C	NP_056150.1:n.2791-94A>C
XM_011538080.1:c.2791-94A>C	XP_011536382.1:n.2791-94A>C
XM_011538081.1:c.2788-94A>C	XP_011536383.1:n.2788-94A>C
XM_011538082.1:c.2761-94A>C	XP_011536384.1:n.2761-94A>C
XM_011538080.2:c.2791-94A>C	XP_011536382.1:n.2791-94A>C
XM_011538081.2:c.2788-94A>C	XP_011536383.1:n.2788-94A>C
XM_011538082.2:c.2761-94A>C	XP_011536384.1:n.2761-94A>C
XM_017019090.1:c.2788-94A>C	XP_016874579.1:n.2788-94A>C
NM_015335.5:c.2791-94A>C MANE Select	NP_056150.1:n.2791-94A>C