Canonical Allele Identifier: CA386881336

Gene: MED13L

Linked Data

• dbSNP Id: rs1877400126
• gnomAD v3: 12-115982542-G-A
• gnomAD v4: 12-115982542-G-A
• MyVariant Identifiers: chr12:g.116420347G>A (hg19) ; chr12:g.115982542G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982542G>A , CM000674.2:g.115982542G>A	GRCh38
NC_000012.11:g.116420347G>A , CM000674.1:g.116420347G>A	GRCh37
NC_000012.10:g.114904730G>A	NCBI36
NG_023366.1:g.299645C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5017C>T MANE Select	ENSP00000281928.3:p.His1673Tyr
ENST00000549786.2:c.4445C>T
ENST00000648379.1:n.3385C>T
ENST00000648737.1:n.4781C>T
ENST00000648825.1:n.1757C>T
ENST00000648916.1:n.3028C>T
ENST00000649146.1:n.2260C>T
ENST00000649607.1:c.3201C>T
ENST00000649775.1:c.1506C>T
ENST00000650226.1:c.5017C>T	ENSP00000496981.1:p.His1673Tyr
ENST00000281928.7:c.5017C>T	ENSP00000281928.3:p.His1673Tyr
ENST00000549786.1:c.381C>T
ENST00000552340.1:c.49C>T	ENSP00000449876.1:p.His17Tyr
NM_015335.4:c.5017C>T	NP_056150.1:p.His1673Tyr
XM_011538080.1:c.5017C>T	XP_011536382.1:p.His1673Tyr
XM_011538081.1:c.5014C>T	XP_011536383.1:p.His1672Tyr
XM_011538082.1:c.4987C>T	XP_011536384.1:p.His1663Tyr
XM_011538080.2:c.5017C>T	XP_011536382.1:p.His1673Tyr
XM_011538081.2:c.5014C>T	XP_011536383.1:p.His1672Tyr
XM_011538082.2:c.4987C>T	XP_011536384.1:p.His1663Tyr
XM_017019090.1:c.5014C>T	XP_016874579.1:p.His1672Tyr
NM_015335.5:c.5017C>T MANE Select	NP_056150.1:p.His1673Tyr