Canonical Allele Identifier: CA6811835

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1226101
• ClinVar RCV Id: RCV001613776
• dbSNP Id: rs768244395
• ExAC: 12:116675555 C / G
• gnomAD v2: 12-116675555-C-G
• gnomAD v3: 12-116237750-C-G
• gnomAD v4: 12-116237750-C-G
• MyVariant Identifiers: chr12:g.116675555C>G (hg19) ; chr12:g.116237750C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116237750C>G , CM000674.2:g.116237750C>G	GRCh38
NC_000012.11:g.116675555C>G , CM000674.1:g.116675555C>G	GRCh37
NC_000012.10:g.115159938C>G	NCBI36
NG_023366.1:g.44437G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.73-45G>C MANE Select	ENSP00000281928.3:n.73-45G>C
ENST00000548743.2:c.43-45G>C	ENSP00000448553.2:n.43-45G>C
ENST00000551197.2:c.23-45G>C
ENST00000650226.1:c.73-45G>C	ENSP00000496981.1:n.73-45G>C
ENST00000650375.1:n.235-45G>C
ENST00000281928.7:c.73-45G>C	ENSP00000281928.3:n.73-45G>C
ENST00000548743.1:c.43-45G>C	ENSP00000448553.1:n.43-45G>C
ENST00000551197.1:n.23-45G>C
NM_015335.4:c.73-45G>C	NP_056150.1:n.73-45G>C
XM_011538080.1:c.73-45G>C	XP_011536382.1:n.73-45G>C
XM_011538081.1:c.73-45G>C	XP_011536383.1:n.73-45G>C
XM_011538082.1:c.43-45G>C	XP_011536384.1:n.43-45G>C
XM_011538080.2:c.73-45G>C	XP_011536382.1:n.73-45G>C
XM_011538081.2:c.73-45G>C	XP_011536383.1:n.73-45G>C
XM_011538082.2:c.43-45G>C	XP_011536384.1:n.43-45G>C
XM_017019090.1:c.73-45G>C	XP_016874579.1:n.73-45G>C
NM_015335.5:c.73-45G>C MANE Select	NP_056150.1:n.73-45G>C