Canonical Allele Identifier: CA6810814

Gene: MED13L

Linked Data

• ClinVar Variation Id: 464492
• ClinVar RCV Id: RCV000532239 ; RCV001400984 ; RCV004541689
• dbSNP Id: rs376463996
• ExAC: 12:116422187 T / C
• gnomAD v2: 12-116422187-T-C
• gnomAD v3: 12-115984382-T-C
• gnomAD v4: 12-115984382-T-C
• MyVariant Identifiers: chr12:g.116422187T>C (hg19) ; chr12:g.115984382T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984382T>C , CM000674.2:g.115984382T>C	GRCh38
NC_000012.11:g.116422187T>C , CM000674.1:g.116422187T>C	GRCh37
NC_000012.10:g.114906570T>C	NCBI36
NG_023366.1:g.297805A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4339-10A>G MANE Select	ENSP00000281928.3:n.4339-10A>G
ENST00000549786.2:c.3767-10A>G
ENST00000648379.1:n.2707-10A>G
ENST00000648737.1:n.4103-10A>G
ENST00000648825.1:n.1079-10A>G
ENST00000648916.1:n.2350-10A>G
ENST00000649146.1:n.1059A>G
ENST00000649607.1:c.2523-10A>G
ENST00000649775.1:c.836-10A>G
ENST00000650091.1:n.2315-10A>G
ENST00000650226.1:c.4339-10A>G	ENSP00000496981.1:n.4339-10A>G
ENST00000281928.7:c.4339-10A>G	ENSP00000281928.3:n.4339-10A>G
NM_015335.4:c.4339-10A>G	NP_056150.1:n.4339-10A>G
XM_011538080.1:c.4339-10A>G	XP_011536382.1:n.4339-10A>G
XM_011538081.1:c.4336-10A>G	XP_011536383.1:n.4336-10A>G
XM_011538082.1:c.4309-10A>G	XP_011536384.1:n.4309-10A>G
XM_011538080.2:c.4339-10A>G	XP_011536382.1:n.4339-10A>G
XM_011538081.2:c.4336-10A>G	XP_011536383.1:n.4336-10A>G
XM_011538082.2:c.4309-10A>G	XP_011536384.1:n.4309-10A>G
XM_017019090.1:c.4336-10A>G	XP_016874579.1:n.4336-10A>G
NM_015335.5:c.4339-10A>G MANE Select	NP_056150.1:n.4339-10A>G