Canonical Allele Identifier: CA386878736

Gene: MED13L

Linked Data

• dbSNP Id: rs1876860313
• gnomAD v3: 12-115975311-G-A
• gnomAD v4: 12-115975311-G-A
• MyVariant Identifiers: chr12:g.116413116G>A (hg19) ; chr12:g.115975311G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975311G>A , CM000674.2:g.115975311G>A	GRCh38
NC_000012.11:g.116413116G>A , CM000674.1:g.116413116G>A	GRCh37
NC_000012.10:g.114897499G>A	NCBI36
NG_023366.1:g.306876C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5591C>T MANE Select	ENSP00000281928.3:p.Ser1864Leu
ENST00000548694.2:n.581C>T
ENST00000648379.1:n.3959C>T
ENST00000648737.1:n.5355C>T
ENST00000648825.1:n.3776C>T
ENST00000648916.1:n.3602C>T
ENST00000649607.1:c.3775C>T
ENST00000649775.1:c.2080C>T
ENST00000650226.1:c.5627C>T	ENSP00000496981.1:p.Ser1876Leu
ENST00000281928.7:c.5591C>T	ENSP00000281928.3:p.Ser1864Leu
ENST00000548694.1:n.581C>T
ENST00000552447.1:c.204C>T
NM_015335.4:c.5591C>T	NP_056150.1:p.Ser1864Leu
XM_011538080.1:c.5627C>T	XP_011536382.1:p.Ser1876Leu
XM_011538081.1:c.5624C>T	XP_011536383.1:p.Ser1875Leu
XM_011538082.1:c.5597C>T	XP_011536384.1:p.Ser1866Leu
XM_011538080.2:c.5627C>T	XP_011536382.1:p.Ser1876Leu
XM_011538081.2:c.5624C>T	XP_011536383.1:p.Ser1875Leu
XM_011538082.2:c.5597C>T	XP_011536384.1:p.Ser1866Leu
XM_017019090.1:c.5588C>T	XP_016874579.1:p.Ser1863Leu
NM_015335.5:c.5591C>T MANE Select	NP_056150.1:p.Ser1864Leu