Canonical Allele Identifier: CA482008519

Gene: MED13L

Linked Data

• gnomAD v4: 12-116237688-G-A
• MyVariant Identifiers: chr12:g.116675493G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116237688G>A , CM000674.2:g.116237688G>A	GRCh38
NC_000012.11:g.116675493G>A , CM000674.1:g.116675493G>A	GRCh37
NC_000012.10:g.115159876G>A	NCBI36
NG_023366.1:g.44499C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.90C>T MANE Select	ENSP00000281928.3:p.Ile30=
ENST00000548743.2:c.60C>T	ENSP00000448553.2:p.Ile20=
ENST00000551197.2:c.40C>T
ENST00000650226.1:c.90C>T	ENSP00000496981.1:p.Ile30=
ENST00000650375.1:n.252C>T
ENST00000281928.7:c.90C>T	ENSP00000281928.3:p.Ile30=
ENST00000548743.1:c.60C>T	ENSP00000448553.1:p.Ile20=
ENST00000551197.1:n.40C>T
NM_015335.4:c.90C>T	NP_056150.1:p.Ile30=
XM_011538080.1:c.90C>T	XP_011536382.1:p.Ile30=
XM_011538081.1:c.90C>T	XP_011536383.1:p.Ile30=
XM_011538082.1:c.60C>T	XP_011536384.1:p.Ile20=
XM_011538080.2:c.90C>T	XP_011536382.1:p.Ile30=
XM_011538081.2:c.90C>T	XP_011536383.1:p.Ile30=
XM_011538082.2:c.60C>T	XP_011536384.1:p.Ile20=
XM_017019090.1:c.90C>T	XP_016874579.1:p.Ile30=
NM_015335.5:c.90C>T MANE Select	NP_056150.1:p.Ile30=