Canonical Allele Identifier: CA6810563

Gene: MED13L

Linked Data

• dbSNP Id: rs762193359
• ExAC: 12:116413325 T / C
• gnomAD v4: 12-115975520-T-C
• MyVariant Identifiers: chr12:g.116413325T>C (hg19) ; chr12:g.115975520T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975520T>C , CM000674.2:g.115975520T>C	GRCh38
NC_000012.11:g.116413325T>C , CM000674.1:g.116413325T>C	GRCh37
NC_000012.10:g.114897708T>C	NCBI36
NG_023366.1:g.306667A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5583A>G MANE Select	ENSP00000281928.3:p.Pro1861=
ENST00000548694.2:n.372A>G
ENST00000648379.1:n.3951A>G
ENST00000648737.1:n.5347A>G
ENST00000648825.1:n.3768A>G
ENST00000648916.1:n.3594A>G
ENST00000649607.1:c.3767A>G
ENST00000649775.1:c.2072A>G
ENST00000650226.1:c.5583A>G	ENSP00000496981.1:p.Pro1861=
ENST00000281928.7:c.5583A>G	ENSP00000281928.3:p.Pro1861=
ENST00000548694.1:n.372A>G
ENST00000552447.1:c.160A>G
NM_015335.4:c.5583A>G	NP_056150.1:p.Pro1861=
XM_011538080.1:c.5583A>G	XP_011536382.1:p.Pro1861=
XM_011538081.1:c.5580A>G	XP_011536383.1:p.Pro1860=
XM_011538082.1:c.5553A>G	XP_011536384.1:p.Pro1851=
XM_011538080.2:c.5583A>G	XP_011536382.1:p.Pro1861=
XM_011538081.2:c.5580A>G	XP_011536383.1:p.Pro1860=
XM_011538082.2:c.5553A>G	XP_011536384.1:p.Pro1851=
XM_017019090.1:c.5580A>G	XP_016874579.1:p.Pro1860=
NM_015335.5:c.5583A>G MANE Select	NP_056150.1:p.Pro1861=