Canonical Allele Identifier: CA386881254

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982504-G-T
• MyVariant Identifiers: chr12:g.116420309G>T (hg19) ; chr12:g.115982504G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982504G>T , CM000674.2:g.115982504G>T	GRCh38
NC_000012.11:g.116420309G>T , CM000674.1:g.116420309G>T	GRCh37
NC_000012.10:g.114904692G>T	NCBI36
NG_023366.1:g.299683C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5055C>A MANE Select	ENSP00000281928.3:p.Phe1685Leu
ENST00000549786.2:c.4483C>A
ENST00000648379.1:n.3423C>A
ENST00000648737.1:n.4819C>A
ENST00000648825.1:n.1795C>A
ENST00000648916.1:n.3066C>A
ENST00000649146.1:n.2298C>A
ENST00000649607.1:c.3239C>A
ENST00000649775.1:c.1544C>A
ENST00000650226.1:c.5055C>A	ENSP00000496981.1:p.Phe1685Leu
ENST00000281928.7:c.5055C>A	ENSP00000281928.3:p.Phe1685Leu
ENST00000549786.1:c.419C>A
ENST00000552340.1:c.87C>A	ENSP00000449876.1:p.Phe29Leu
NM_015335.4:c.5055C>A	NP_056150.1:p.Phe1685Leu
XM_011538080.1:c.5055C>A	XP_011536382.1:p.Phe1685Leu
XM_011538081.1:c.5052C>A	XP_011536383.1:p.Phe1684Leu
XM_011538082.1:c.5025C>A	XP_011536384.1:p.Phe1675Leu
XM_011538080.2:c.5055C>A	XP_011536382.1:p.Phe1685Leu
XM_011538081.2:c.5052C>A	XP_011536383.1:p.Phe1684Leu
XM_011538082.2:c.5025C>A	XP_011536384.1:p.Phe1675Leu
XM_017019090.1:c.5052C>A	XP_016874579.1:p.Phe1684Leu
NM_015335.5:c.5055C>A MANE Select	NP_056150.1:p.Phe1685Leu