Canonical Allele Identifier: CA386888452

Gene: MED13L

Linked Data

• dbSNP Id: rs1878070910
• gnomAD v3: 12-115991688-G-A
• gnomAD v4: 12-115991688-G-A
• MyVariant Identifiers: chr12:g.116429493G>A (hg19) ; chr12:g.115991688G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991688G>A , CM000674.2:g.115991688G>A	GRCh38
NC_000012.11:g.116429493G>A , CM000674.1:g.116429493G>A	GRCh37
NC_000012.10:g.114913876G>A	NCBI36
NG_023366.1:g.290499C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3266C>T MANE Select	ENSP00000281928.3:p.Thr1089Ile
ENST00000548743.2:c.3236C>T	ENSP00000448553.2:p.Thr1079Ile
ENST00000549786.2:c.2694C>T
ENST00000648379.1:n.1634C>T
ENST00000648737.1:n.3030C>T
ENST00000648825.1:n.6C>T
ENST00000648916.1:n.1277C>T
ENST00000649607.1:c.1450C>T
ENST00000650226.1:c.3266C>T	ENSP00000496981.1:p.Thr1089Ile
ENST00000281928.7:c.3266C>T	ENSP00000281928.3:p.Thr1089Ile
NM_015335.4:c.3266C>T	NP_056150.1:p.Thr1089Ile
XM_011538080.1:c.3266C>T	XP_011536382.1:p.Thr1089Ile
XM_011538081.1:c.3263C>T	XP_011536383.1:p.Thr1088Ile
XM_011538082.1:c.3236C>T	XP_011536384.1:p.Thr1079Ile
XM_011538080.2:c.3266C>T	XP_011536382.1:p.Thr1089Ile
XM_011538081.2:c.3263C>T	XP_011536383.1:p.Thr1088Ile
XM_011538082.2:c.3236C>T	XP_011536384.1:p.Thr1079Ile
XM_017019090.1:c.3263C>T	XP_016874579.1:p.Thr1088Ile
NM_015335.5:c.3266C>T MANE Select	NP_056150.1:p.Thr1089Ile