Canonical Allele Identifier: CA482137144

Gene: MED13L

Linked Data

• dbSNP Id: rs1878062106
• gnomAD v4: 12-115991588-G-T
• MyVariant Identifiers: chr12:g.116429393G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991588G>T , CM000674.2:g.115991588G>T	GRCh38
NC_000012.11:g.116429393G>T , CM000674.1:g.116429393G>T	GRCh37
NC_000012.10:g.114913776G>T	NCBI36
NG_023366.1:g.290599C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.3366C>A MANE Select	ENSP00000281928.3:p.Ile1122=
ENST00000549786.2:c.2794C>A
ENST00000648379.1:n.1734C>A
ENST00000648737.1:n.3130C>A
ENST00000648825.1:n.106C>A
ENST00000648916.1:n.1377C>A
ENST00000649607.1:c.1550C>A
ENST00000650226.1:c.3366C>A	ENSP00000496981.1:p.Ile1122=
ENST00000281928.7:c.3366C>A	ENSP00000281928.3:p.Ile1122=
NM_015335.4:c.3366C>A	NP_056150.1:p.Ile1122=
XM_011538080.1:c.3366C>A	XP_011536382.1:p.Ile1122=
XM_011538081.1:c.3363C>A	XP_011536383.1:p.Ile1121=
XM_011538082.1:c.3336C>A	XP_011536384.1:p.Ile1112=
XM_011538080.2:c.3366C>A	XP_011536382.1:p.Ile1122=
XM_011538081.2:c.3363C>A	XP_011536383.1:p.Ile1121=
XM_011538082.2:c.3336C>A	XP_011536384.1:p.Ile1112=
XM_017019090.1:c.3363C>A	XP_016874579.1:p.Ile1121=
NM_015335.5:c.3366C>A MANE Select	NP_056150.1:p.Ile1122=