Canonical Allele Identifier: CA6811474

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1003545
• ClinVar RCV Id: RCV001300108 ; RCV003132385 ; RCV003393960
• dbSNP Id: rs374884525
• ExAC: 12:116450697 T / G
• gnomAD v2: 12-116450697-T-G
• gnomAD v3: 12-116012892-T-G
• gnomAD v4: 12-116012892-T-G
• MyVariant Identifiers: chr12:g.116450697T>G (hg19) ; chr12:g.116012892T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012892T>G , CM000674.2:g.116012892T>G	GRCh38
NC_000012.11:g.116450697T>G , CM000674.1:g.116450697T>G	GRCh37
NC_000012.10:g.114935080T>G	NCBI36
NG_023366.1:g.269295A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1185A>C MANE Select	ENSP00000281928.3:p.Gln395His
ENST00000548743.2:c.1155A>C	ENSP00000448553.2:p.Gln385His
ENST00000549786.2:c.613A>C
ENST00000647567.1:c.1092A>C	ENSP00000497136.1:p.Gln364His
ENST00000648737.1:n.949A>C
ENST00000650226.1:c.1185A>C	ENSP00000496981.1:p.Gln395His
ENST00000281928.7:c.1185A>C	ENSP00000281928.3:p.Gln395His
NM_015335.4:c.1185A>C	NP_056150.1:p.Gln395His
XM_011538080.1:c.1185A>C	XP_011536382.1:p.Gln395His
XM_011538081.1:c.1185A>C	XP_011536383.1:p.Gln395His
XM_011538082.1:c.1155A>C	XP_011536384.1:p.Gln385His
XM_011538080.2:c.1185A>C	XP_011536382.1:p.Gln395His
XM_011538081.2:c.1185A>C	XP_011536383.1:p.Gln395His
XM_011538082.2:c.1155A>C	XP_011536384.1:p.Gln385His
XM_017019090.1:c.1185A>C	XP_016874579.1:p.Gln395His
NM_015335.5:c.1185A>C MANE Select	NP_056150.1:p.Gln395His