Canonical Allele Identifier: CA482008488

Gene: MED13L

Linked Data

• gnomAD v4: 12-116237631-G-A
• MyVariant Identifiers: chr12:g.116675436G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116237631G>A , CM000674.2:g.116237631G>A	GRCh38
NC_000012.11:g.116675436G>A , CM000674.1:g.116675436G>A	GRCh37
NC_000012.10:g.115159819G>A	NCBI36
NG_023366.1:g.44556C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.147C>T MANE Select	ENSP00000281928.3:p.Ala49=
ENST00000548743.2:c.117C>T	ENSP00000448553.2:p.Ala39=
ENST00000551197.2:c.97C>T
ENST00000647567.1:c.57C>T	ENSP00000497136.1:p.Ala19=
ENST00000650226.1:c.147C>T	ENSP00000496981.1:p.Ala49=
ENST00000650375.1:n.309C>T
ENST00000281928.7:c.147C>T	ENSP00000281928.3:p.Ala49=
ENST00000548743.1:c.117C>T	ENSP00000448553.1:p.Ala39=
ENST00000551197.1:n.97C>T
NM_015335.4:c.147C>T	NP_056150.1:p.Ala49=
XM_011538080.1:c.147C>T	XP_011536382.1:p.Ala49=
XM_011538081.1:c.147C>T	XP_011536383.1:p.Ala49=
XM_011538082.1:c.117C>T	XP_011536384.1:p.Ala39=
XM_011538080.2:c.147C>T	XP_011536382.1:p.Ala49=
XM_011538081.2:c.147C>T	XP_011536383.1:p.Ala49=
XM_011538082.2:c.117C>T	XP_011536384.1:p.Ala39=
XM_017019090.1:c.147C>T	XP_016874579.1:p.Ala49=
NM_015335.5:c.147C>T MANE Select	NP_056150.1:p.Ala49=