Canonical Allele Identifier: CA684019436

Gene: MED13L

Linked Data

• dbSNP Id: rs1342998930
• gnomAD v4: 12-115970536-A-G
• MyVariant Identifiers: chr12:g.116408341A>G (hg19) ; chr12:g.115970536A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970536A>G , CM000674.2:g.115970536A>G	GRCh38
NC_000012.11:g.116408341A>G , CM000674.1:g.116408341A>G	GRCh37
NC_000012.10:g.114892724A>G	NCBI36
NG_023366.1:g.311651T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6067+58T>C MANE Select	ENSP00000281928.3:n.6067+58T>C
ENST00000548784.2:n.2281+58T>C
ENST00000648379.1:n.4435+58T>C
ENST00000648737.1:n.5831+58T>C
ENST00000648825.1:n.4252+58T>C
ENST00000648916.1:n.4078+58T>C
ENST00000649607.1:c.4251+58T>C
ENST00000649775.1:c.2556+58T>C
ENST00000650226.1:c.6103+58T>C	ENSP00000496981.1:n.6103+58T>C
ENST00000281928.7:c.6067+58T>C	ENSP00000281928.3:n.6067+58T>C
NM_015335.4:c.6067+58T>C	NP_056150.1:n.6067+58T>C
XM_011538080.1:c.6103+58T>C	XP_011536382.1:n.6103+58T>C
XM_011538081.1:c.6100+58T>C	XP_011536383.1:n.6100+58T>C
XM_011538082.1:c.6073+58T>C	XP_011536384.1:n.6073+58T>C
XM_011538080.2:c.6103+58T>C	XP_011536382.1:n.6103+58T>C
XM_011538081.2:c.6100+58T>C	XP_011536383.1:n.6100+58T>C
XM_011538082.2:c.6073+58T>C	XP_011536384.1:n.6073+58T>C
XM_017019090.1:c.6064+58T>C	XP_016874579.1:n.6064+58T>C
NM_015335.5:c.6067+58T>C MANE Select	NP_056150.1:n.6067+58T>C