Canonical Allele Identifier: CA6811470

Gene: MED13L

Linked Data

• dbSNP Id: rs756009695
• ExAC: 12:116450689 G / A
• gnomAD v2: 12-116450689-G-A
• gnomAD v4: 12-116012884-G-A
• MyVariant Identifiers: chr12:g.116450689G>A (hg19) ; chr12:g.116012884G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012884G>A , CM000674.2:g.116012884G>A	GRCh38
NC_000012.11:g.116450689G>A , CM000674.1:g.116450689G>A	GRCh37
NC_000012.10:g.114935072G>A	NCBI36
NG_023366.1:g.269303C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1193C>T MANE Select	ENSP00000281928.3:p.Thr398Ile
ENST00000548743.2:c.1163C>T	ENSP00000448553.2:p.Thr388Ile
ENST00000549786.2:c.621C>T
ENST00000647567.1:c.1100C>T	ENSP00000497136.1:p.Thr367Ile
ENST00000648737.1:n.957C>T
ENST00000650226.1:c.1193C>T	ENSP00000496981.1:p.Thr398Ile
ENST00000281928.7:c.1193C>T	ENSP00000281928.3:p.Thr398Ile
NM_015335.4:c.1193C>T	NP_056150.1:p.Thr398Ile
XM_011538080.1:c.1193C>T	XP_011536382.1:p.Thr398Ile
XM_011538081.1:c.1193C>T	XP_011536383.1:p.Thr398Ile
XM_011538082.1:c.1163C>T	XP_011536384.1:p.Thr388Ile
XM_011538080.2:c.1193C>T	XP_011536382.1:p.Thr398Ile
XM_011538081.2:c.1193C>T	XP_011536383.1:p.Thr398Ile
XM_011538082.2:c.1163C>T	XP_011536384.1:p.Thr388Ile
XM_017019090.1:c.1193C>T	XP_016874579.1:p.Thr398Ile
NM_015335.5:c.1193C>T MANE Select	NP_056150.1:p.Thr398Ile