Canonical Allele Identifier: CA608055687

Gene: MED13L

Linked Data

• dbSNP Id: rs1442601519
• gnomAD v2: 12-116413291-C-A
• gnomAD v4: 12-115975486-C-A
• MyVariant Identifiers: chr12:g.116413291C>A (hg19) ; chr12:g.115975486C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975486C>A , CM000674.2:g.115975486C>A	GRCh38
NC_000012.11:g.116413291C>A , CM000674.1:g.116413291C>A	GRCh37
NC_000012.10:g.114897674C>A	NCBI36
NG_023366.1:g.306701G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5588+29G>T MANE Select	ENSP00000281928.3:n.5588+29G>T
ENST00000548694.2:n.406G>T
ENST00000648379.1:n.3956+29G>T
ENST00000648737.1:n.5352+29G>T
ENST00000648825.1:n.3773+29G>T
ENST00000648916.1:n.3599+29G>T
ENST00000649607.1:c.3772+29G>T
ENST00000649775.1:c.2077+29G>T
ENST00000650226.1:c.5588+29G>T	ENSP00000496981.1:n.5588+29G>T
ENST00000281928.7:c.5588+29G>T	ENSP00000281928.3:n.5588+29G>T
ENST00000548694.1:n.406G>T
ENST00000552447.1:c.165+29G>T
NM_015335.4:c.5588+29G>T	NP_056150.1:n.5588+29G>T
XM_011538080.1:c.5588+29G>T	XP_011536382.1:n.5588+29G>T
XM_011538081.1:c.5585+29G>T	XP_011536383.1:n.5585+29G>T
XM_011538082.1:c.5558+29G>T	XP_011536384.1:n.5558+29G>T
XM_011538080.2:c.5588+29G>T	XP_011536382.1:n.5588+29G>T
XM_011538081.2:c.5585+29G>T	XP_011536383.1:n.5585+29G>T
XM_011538082.2:c.5558+29G>T	XP_011536384.1:n.5558+29G>T
XM_017019090.1:c.5585+29G>T	XP_016874579.1:n.5585+29G>T
NM_015335.5:c.5588+29G>T MANE Select	NP_056150.1:n.5588+29G>T