Canonical Allele Identifier: CA386881333

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420346T>A (hg19) ; chr12:g.115982541T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982541T>A , CM000674.2:g.115982541T>A	GRCh38
NC_000012.11:g.116420346T>A , CM000674.1:g.116420346T>A	GRCh37
NC_000012.10:g.114904729T>A	NCBI36
NG_023366.1:g.299646A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5018A>T MANE Select	ENSP00000281928.3:p.His1673Leu
ENST00000549786.2:c.4446A>T
ENST00000648379.1:n.3386A>T
ENST00000648737.1:n.4782A>T
ENST00000648825.1:n.1758A>T
ENST00000648916.1:n.3029A>T
ENST00000649146.1:n.2261A>T
ENST00000649607.1:c.3202A>T
ENST00000649775.1:c.1507A>T
ENST00000650226.1:c.5018A>T	ENSP00000496981.1:p.His1673Leu
ENST00000281928.7:c.5018A>T	ENSP00000281928.3:p.His1673Leu
ENST00000549786.1:c.382A>T
ENST00000552340.1:c.50A>T	ENSP00000449876.1:p.His17Leu
NM_015335.4:c.5018A>T	NP_056150.1:p.His1673Leu
XM_011538080.1:c.5018A>T	XP_011536382.1:p.His1673Leu
XM_011538081.1:c.5015A>T	XP_011536383.1:p.His1672Leu
XM_011538082.1:c.4988A>T	XP_011536384.1:p.His1663Leu
XM_011538080.2:c.5018A>T	XP_011536382.1:p.His1673Leu
XM_011538081.2:c.5015A>T	XP_011536383.1:p.His1672Leu
XM_011538082.2:c.4988A>T	XP_011536384.1:p.His1663Leu
XM_017019090.1:c.5015A>T	XP_016874579.1:p.His1672Leu
NM_015335.5:c.5018A>T MANE Select	NP_056150.1:p.His1673Leu