Canonical Allele Identifier: CA386891996

Gene: MED13L

Linked Data

• gnomAD v4: 12-116003069-G-A
• MyVariant Identifiers: chr12:g.116440874G>A (hg19) ; chr12:g.116003069G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116003069G>A , CM000674.2:g.116003069G>A	GRCh38
NC_000012.11:g.116440874G>A , CM000674.1:g.116440874G>A	GRCh37
NC_000012.10:g.114925257G>A	NCBI36
NG_023366.1:g.279118C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2503C>T MANE Select	ENSP00000281928.3:p.Pro835Ser
ENST00000548743.2:c.2473C>T	ENSP00000448553.2:p.Pro825Ser
ENST00000549786.2:c.1931C>T
ENST00000648173.1:n.1298C>T
ENST00000648379.1:n.871C>T
ENST00000648737.1:n.2267C>T
ENST00000648916.1:n.514C>T
ENST00000649607.1:c.690C>T
ENST00000650226.1:c.2503C>T	ENSP00000496981.1:p.Pro835Ser
ENST00000281928.7:c.2503C>T	ENSP00000281928.3:p.Pro835Ser
NM_015335.4:c.2503C>T	NP_056150.1:p.Pro835Ser
XM_011538080.1:c.2503C>T	XP_011536382.1:p.Pro835Ser
XM_011538081.1:c.2503C>T	XP_011536383.1:p.Pro835Ser
XM_011538082.1:c.2473C>T	XP_011536384.1:p.Pro825Ser
XM_011538080.2:c.2503C>T	XP_011536382.1:p.Pro835Ser
XM_011538081.2:c.2503C>T	XP_011536383.1:p.Pro835Ser
XM_011538082.2:c.2473C>T	XP_011536384.1:p.Pro825Ser
XM_017019090.1:c.2503C>T	XP_016874579.1:p.Pro835Ser
NM_015335.5:c.2503C>T MANE Select	NP_056150.1:p.Pro835Ser