Canonical Allele Identifier: CA244150339

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2047019
• ClinVar RCV Id: RCV002903985
• dbSNP Id: rs369196762
• gnomAD v2: 12-116429741-G-A
• gnomAD v4: 12-115991936-G-A
• MyVariant Identifiers: chr12:g.116429741G>A (hg19) ; chr12:g.115991936G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991936G>A , CM000674.2:g.115991936G>A	GRCh38
NC_000012.11:g.116429741G>A , CM000674.1:g.116429741G>A	GRCh37
NC_000012.10:g.114914124G>A	NCBI36
NG_023366.1:g.290251C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3018C>T MANE Select	ENSP00000281928.3:p.Ser1006=
ENST00000548743.2:c.2988C>T	ENSP00000448553.2:p.Ser996=
ENST00000549786.2:c.2446C>T
ENST00000648173.1:n.1813C>T
ENST00000648379.1:n.1386C>T
ENST00000648737.1:n.2782C>T
ENST00000648916.1:n.1029C>T
ENST00000649607.1:c.1202C>T
ENST00000650226.1:c.3018C>T	ENSP00000496981.1:p.Ser1006=
ENST00000281928.7:c.3018C>T	ENSP00000281928.3:p.Ser1006=
NM_015335.4:c.3018C>T	NP_056150.1:p.Ser1006=
XM_011538080.1:c.3018C>T	XP_011536382.1:p.Ser1006=
XM_011538081.1:c.3015C>T	XP_011536383.1:p.Ser1005=
XM_011538082.1:c.2988C>T	XP_011536384.1:p.Ser996=
XM_011538080.2:c.3018C>T	XP_011536382.1:p.Ser1006=
XM_011538081.2:c.3015C>T	XP_011536383.1:p.Ser1005=
XM_011538082.2:c.2988C>T	XP_011536384.1:p.Ser996=
XM_017019090.1:c.3015C>T	XP_016874579.1:p.Ser1005=
NM_015335.5:c.3018C>T MANE Select	NP_056150.1:p.Ser1006=