Canonical Allele Identifier: CA481942528

Gene: MED13L

Linked Data

• gnomAD v4: 12-115966139-G-T
• MyVariant Identifiers: chr12:g.116403944G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966139G>T , CM000674.2:g.115966139G>T	GRCh38
NC_000012.11:g.116403944G>T , CM000674.1:g.116403944G>T	GRCh37
NC_000012.10:g.114888327G>T	NCBI36
NG_023366.1:g.316048C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6330C>A MANE Select	ENSP00000281928.3:p.Pro2110=
ENST00000548784.2:n.2544C>A
ENST00000648379.1:n.4698C>A
ENST00000648737.1:n.6094C>A
ENST00000648762.1:n.1020C>A
ENST00000648825.1:n.4515C>A
ENST00000648916.1:n.4341C>A
ENST00000649607.1:c.4514C>A
ENST00000649775.1:c.2661C>A
ENST00000650226.1:c.6366C>A	ENSP00000496981.1:p.Pro2122=
ENST00000281928.7:c.6330C>A	ENSP00000281928.3:p.Pro2110=
NM_015335.4:c.6330C>A	NP_056150.1:p.Pro2110=
XM_011538080.1:c.6366C>A	XP_011536382.1:p.Pro2122=
XM_011538081.1:c.6363C>A	XP_011536383.1:p.Pro2121=
XM_011538082.1:c.6336C>A	XP_011536384.1:p.Pro2112=
XM_011538080.2:c.6366C>A	XP_011536382.1:p.Pro2122=
XM_011538081.2:c.6363C>A	XP_011536383.1:p.Pro2121=
XM_011538082.2:c.6336C>A	XP_011536384.1:p.Pro2112=
XM_017019090.1:c.6327C>A	XP_016874579.1:p.Pro2109=
NM_015335.5:c.6330C>A MANE Select	NP_056150.1:p.Pro2110=