Canonical Allele Identifier: CA386881195

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982479-T-A
• MyVariant Identifiers: chr12:g.116420284T>A (hg19) ; chr12:g.115982479T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982479T>A , CM000674.2:g.115982479T>A	GRCh38
NC_000012.11:g.116420284T>A , CM000674.1:g.116420284T>A	GRCh37
NC_000012.10:g.114904667T>A	NCBI36
NG_023366.1:g.299708A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5080A>T MANE Select	ENSP00000281928.3:p.Thr1694Ser
ENST00000549786.2:c.4508A>T
ENST00000648379.1:n.3448A>T
ENST00000648737.1:n.4844A>T
ENST00000648825.1:n.1820A>T
ENST00000648916.1:n.3091A>T
ENST00000649146.1:n.2323A>T
ENST00000649607.1:c.3264A>T
ENST00000649775.1:c.1569A>T
ENST00000650226.1:c.5080A>T	ENSP00000496981.1:p.Thr1694Ser
ENST00000281928.7:c.5080A>T	ENSP00000281928.3:p.Thr1694Ser
ENST00000549786.1:c.444A>T
ENST00000552340.1:c.112A>T	ENSP00000449876.1:p.Thr38Ser
NM_015335.4:c.5080A>T	NP_056150.1:p.Thr1694Ser
XM_011538080.1:c.5080A>T	XP_011536382.1:p.Thr1694Ser
XM_011538081.1:c.5077A>T	XP_011536383.1:p.Thr1693Ser
XM_011538082.1:c.5050A>T	XP_011536384.1:p.Thr1684Ser
XM_011538080.2:c.5080A>T	XP_011536382.1:p.Thr1694Ser
XM_011538081.2:c.5077A>T	XP_011536383.1:p.Thr1693Ser
XM_011538082.2:c.5050A>T	XP_011536384.1:p.Thr1684Ser
XM_017019090.1:c.5077A>T	XP_016874579.1:p.Thr1693Ser
NM_015335.5:c.5080A>T MANE Select	NP_056150.1:p.Thr1694Ser