Canonical Allele Identifier: CA6811129

Gene: MED13L

Linked Data

• dbSNP Id: rs762889504
• ExAC: 12:116435051 A / G
• gnomAD v2: 12-116435051-A-G
• gnomAD v4: 12-115997246-A-G
• MyVariant Identifiers: chr12:g.116435051A>G (hg19) ; chr12:g.115997246A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997246A>G , CM000674.2:g.115997246A>G	GRCh38
NC_000012.11:g.116435051A>G , CM000674.1:g.116435051A>G	GRCh37
NC_000012.10:g.114919434A>G	NCBI36
NG_023366.1:g.284941T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2570-16T>C MANE Select	ENSP00000281928.3:n.2570-16T>C
ENST00000548743.2:c.2540-16T>C	ENSP00000448553.2:n.2540-16T>C
ENST00000549786.2:c.1998-16T>C
ENST00000647927.1:n.2927T>C
ENST00000648173.1:n.1365-16T>C
ENST00000648379.1:n.938-16T>C
ENST00000648737.1:n.2334-16T>C
ENST00000648916.1:n.581-16T>C
ENST00000649607.1:c.757-19T>C
ENST00000650226.1:c.2570-16T>C	ENSP00000496981.1:n.2570-16T>C
ENST00000281928.7:c.2570-16T>C	ENSP00000281928.3:n.2570-16T>C
NM_015335.4:c.2570-16T>C	NP_056150.1:n.2570-16T>C
XM_011538080.1:c.2570-16T>C	XP_011536382.1:n.2570-16T>C
XM_011538081.1:c.2570-19T>C	XP_011536383.1:n.2570-19T>C
XM_011538082.1:c.2540-16T>C	XP_011536384.1:n.2540-16T>C
XM_011538080.2:c.2570-16T>C	XP_011536382.1:n.2570-16T>C
XM_011538081.2:c.2570-19T>C	XP_011536383.1:n.2570-19T>C
XM_011538082.2:c.2540-16T>C	XP_011536384.1:n.2540-16T>C
XM_017019090.1:c.2570-19T>C	XP_016874579.1:n.2570-19T>C
NM_015335.5:c.2570-16T>C MANE Select	NP_056150.1:n.2570-16T>C