Canonical Allele Identifier: CA608055729

Gene: MED13L

Linked Data

• dbSNP Id: rs1565991982
• gnomAD v2: 12-116420136-T-G
• gnomAD v4: 12-115982331-T-G
• MyVariant Identifiers: chr12:g.116420136_116420139delinsGAAC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982331T>G , CM000674.2:g.115982331T>G	GRCh38
NC_000012.11:g.116420136T>G , CM000674.1:g.116420136T>G	GRCh37
NC_000012.10:g.114904519T>G	NCBI36
NG_023366.1:g.299856A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5175+53A>C MANE Select	ENSP00000281928.3:n.5175+53A>C
ENST00000549786.2:c.4656A>C
ENST00000648379.1:n.3543+53A>C
ENST00000648737.1:n.4939+53A>C
ENST00000648825.1:n.1968A>C
ENST00000648916.1:n.3186+53A>C
ENST00000649146.1:n.2471A>C
ENST00000649607.1:c.3359+53A>C
ENST00000649775.1:c.1664+53A>C
ENST00000650226.1:c.5175+53A>C	ENSP00000496981.1:n.5175+53A>C
ENST00000281928.7:c.5175+53A>C	ENSP00000281928.3:n.5175+53A>C
ENST00000549786.1:c.592A>C
ENST00000552340.1:c.207+53A>C	ENSP00000449876.1:n.207+53A>C
NM_015335.4:c.5175+53A>C	NP_056150.1:n.5175+53A>C
XM_011538080.1:c.5175+53A>C	XP_011536382.1:n.5175+53A>C
XM_011538081.1:c.5172+53A>C	XP_011536383.1:n.5172+53A>C
XM_011538082.1:c.5145+53A>C	XP_011536384.1:n.5145+53A>C
XM_011538080.2:c.5175+53A>C	XP_011536382.1:n.5175+53A>C
XM_011538081.2:c.5172+53A>C	XP_011536383.1:n.5172+53A>C
XM_011538082.2:c.5145+53A>C	XP_011536384.1:n.5145+53A>C
XM_017019090.1:c.5172+53A>C	XP_016874579.1:n.5172+53A>C
NM_015335.5:c.5175+53A>C MANE Select	NP_056150.1:n.5175+53A>C