Canonical Allele Identifier: CA386898199

Gene: MED13L

Linked Data

• gnomAD v4: 12-116012811-G-T
• MyVariant Identifiers: chr12:g.116450616G>T (hg19) ; chr12:g.116012811G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012811G>T , CM000674.2:g.116012811G>T	GRCh38
NC_000012.11:g.116450616G>T , CM000674.1:g.116450616G>T	GRCh37
NC_000012.10:g.114934999G>T	NCBI36
NG_023366.1:g.269376C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1266C>A MANE Select	ENSP00000281928.3:p.Ser422Arg
ENST00000548743.2:c.1236C>A	ENSP00000448553.2:p.Ser412Arg
ENST00000549786.2:c.694C>A
ENST00000647567.1:c.1173C>A	ENSP00000497136.1:p.Ser391Arg
ENST00000648737.1:n.1030C>A
ENST00000650226.1:c.1266C>A	ENSP00000496981.1:p.Ser422Arg
ENST00000281928.7:c.1266C>A	ENSP00000281928.3:p.Ser422Arg
NM_015335.4:c.1266C>A	NP_056150.1:p.Ser422Arg
XM_011538080.1:c.1266C>A	XP_011536382.1:p.Ser422Arg
XM_011538081.1:c.1266C>A	XP_011536383.1:p.Ser422Arg
XM_011538082.1:c.1236C>A	XP_011536384.1:p.Ser412Arg
XM_011538080.2:c.1266C>A	XP_011536382.1:p.Ser422Arg
XM_011538081.2:c.1266C>A	XP_011536383.1:p.Ser422Arg
XM_011538082.2:c.1236C>A	XP_011536384.1:p.Ser412Arg
XM_017019090.1:c.1266C>A	XP_016874579.1:p.Ser422Arg
NM_015335.5:c.1266C>A MANE Select	NP_056150.1:p.Ser422Arg