Canonical Allele Identifier: CA6810655

Gene: MED13L

Linked Data

• dbSNP Id: rs774286275
• ExAC: 12:116420135 A / G
• gnomAD v2: 12-116420135-A-G
• gnomAD v3: 12-115982330-A-G
• gnomAD v4: 12-115982330-A-G
• MyVariant Identifiers: chr12:g.116420135A>G (hg19) ; chr12:g.115982330A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982330A>G , CM000674.2:g.115982330A>G	GRCh38
NC_000012.11:g.116420135A>G , CM000674.1:g.116420135A>G	GRCh37
NC_000012.10:g.114904518A>G	NCBI36
NG_023366.1:g.299857T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5175+54T>C MANE Select	ENSP00000281928.3:n.5175+54T>C
ENST00000549786.2:c.4657T>C
ENST00000648379.1:n.3543+54T>C
ENST00000648737.1:n.4939+54T>C
ENST00000648825.1:n.1969T>C
ENST00000648916.1:n.3186+54T>C
ENST00000649146.1:n.2472T>C
ENST00000649607.1:c.3359+54T>C
ENST00000649775.1:c.1664+54T>C
ENST00000650226.1:c.5175+54T>C	ENSP00000496981.1:n.5175+54T>C
ENST00000281928.7:c.5175+54T>C	ENSP00000281928.3:n.5175+54T>C
ENST00000549786.1:c.593T>C
ENST00000552340.1:c.207+54T>C	ENSP00000449876.1:n.207+54T>C
NM_015335.4:c.5175+54T>C	NP_056150.1:n.5175+54T>C
XM_011538080.1:c.5175+54T>C	XP_011536382.1:n.5175+54T>C
XM_011538081.1:c.5172+54T>C	XP_011536383.1:n.5172+54T>C
XM_011538082.1:c.5145+54T>C	XP_011536384.1:n.5145+54T>C
XM_011538080.2:c.5175+54T>C	XP_011536382.1:n.5175+54T>C
XM_011538081.2:c.5172+54T>C	XP_011536383.1:n.5172+54T>C
XM_011538082.2:c.5145+54T>C	XP_011536384.1:n.5145+54T>C
XM_017019090.1:c.5172+54T>C	XP_016874579.1:n.5172+54T>C
NM_015335.5:c.5175+54T>C MANE Select	NP_056150.1:n.5175+54T>C