Canonical Allele Identifier: CA6811012

Gene: MED13L

Linked Data

• dbSNP Id: rs772130694
• ExAC: 12:116429534 A / G
• gnomAD v2: 12-116429534-A-G
• gnomAD v3: 12-115991729-A-G
• gnomAD v4: 12-115991729-A-G
• MyVariant Identifiers: chr12:g.116429534A>G (hg19) ; chr12:g.115991729A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991729A>G , CM000674.2:g.115991729A>G	GRCh38
NC_000012.11:g.116429534A>G , CM000674.1:g.116429534A>G	GRCh37
NC_000012.10:g.114913917A>G	NCBI36
NG_023366.1:g.290458T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3225T>C MANE Select	ENSP00000281928.3:p.Asp1075=
ENST00000548743.2:c.3195T>C	ENSP00000448553.2:p.Asp1065=
ENST00000549786.2:c.2653T>C
ENST00000648173.1:n.2020T>C
ENST00000648379.1:n.1593T>C
ENST00000648737.1:n.2989T>C
ENST00000648916.1:n.1236T>C
ENST00000649607.1:c.1409T>C
ENST00000650226.1:c.3225T>C	ENSP00000496981.1:p.Asp1075=
ENST00000281928.7:c.3225T>C	ENSP00000281928.3:p.Asp1075=
NM_015335.4:c.3225T>C	NP_056150.1:p.Asp1075=
XM_011538080.1:c.3225T>C	XP_011536382.1:p.Asp1075=
XM_011538081.1:c.3222T>C	XP_011536383.1:p.Asp1074=
XM_011538082.1:c.3195T>C	XP_011536384.1:p.Asp1065=
XM_011538080.2:c.3225T>C	XP_011536382.1:p.Asp1075=
XM_011538081.2:c.3222T>C	XP_011536383.1:p.Asp1074=
XM_011538082.2:c.3195T>C	XP_011536384.1:p.Asp1065=
XM_017019090.1:c.3222T>C	XP_016874579.1:p.Asp1074=
NM_015335.5:c.3225T>C MANE Select	NP_056150.1:p.Asp1075=