Canonical Allele Identifier: CA481944870

Gene: MED13L

Linked Data

• gnomAD v4: 12-115975289-T-C
• MyVariant Identifiers: chr12:g.116413094T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975289T>C , CM000674.2:g.115975289T>C	GRCh38
NC_000012.11:g.116413094T>C , CM000674.1:g.116413094T>C	GRCh37
NC_000012.10:g.114897477T>C	NCBI36
NG_023366.1:g.306898A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5613A>G MANE Select	ENSP00000281928.3:p.Ala1871=
ENST00000548694.2:n.603A>G
ENST00000648379.1:n.3981A>G
ENST00000648737.1:n.5377A>G
ENST00000648825.1:n.3798A>G
ENST00000648916.1:n.3624A>G
ENST00000649607.1:c.3797A>G
ENST00000649775.1:c.2102A>G
ENST00000650226.1:c.5649A>G	ENSP00000496981.1:p.Ala1883=
ENST00000281928.7:c.5613A>G	ENSP00000281928.3:p.Ala1871=
ENST00000548694.1:n.603A>G
ENST00000552447.1:c.226A>G
NM_015335.4:c.5613A>G	NP_056150.1:p.Ala1871=
XM_011538080.1:c.5649A>G	XP_011536382.1:p.Ala1883=
XM_011538081.1:c.5646A>G	XP_011536383.1:p.Ala1882=
XM_011538082.1:c.5619A>G	XP_011536384.1:p.Ala1873=
XM_011538080.2:c.5649A>G	XP_011536382.1:p.Ala1883=
XM_011538081.2:c.5646A>G	XP_011536383.1:p.Ala1882=
XM_011538082.2:c.5619A>G	XP_011536384.1:p.Ala1873=
XM_017019090.1:c.5610A>G	XP_016874579.1:p.Ala1870=
NM_015335.5:c.5613A>G MANE Select	NP_056150.1:p.Ala1871=