Canonical Allele Identifier: CA6811003

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1310692
• ClinVar RCV Id: RCV001767806
• dbSNP Id: rs762410081
• ExAC: 12:116429491 G / A
• gnomAD v2: 12-116429491-G-A
• gnomAD v3: 12-115991686-G-A
• gnomAD v4: 12-115991686-G-A
• MyVariant Identifiers: chr12:g.116429491G>A (hg19) ; chr12:g.115991686G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991686G>A , CM000674.2:g.115991686G>A	GRCh38
NC_000012.11:g.116429491G>A , CM000674.1:g.116429491G>A	GRCh37
NC_000012.10:g.114913874G>A	NCBI36
NG_023366.1:g.290501C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.3268C>T MANE Select	ENSP00000281928.3:p.Arg1090Trp
ENST00000548743.2:c.3238C>T	ENSP00000448553.2:p.Arg1080Trp
ENST00000549786.2:c.2696C>T
ENST00000648379.1:n.1636C>T
ENST00000648737.1:n.3032C>T
ENST00000648825.1:n.8C>T
ENST00000648916.1:n.1279C>T
ENST00000649607.1:c.1452C>T
ENST00000650226.1:c.3268C>T	ENSP00000496981.1:p.Arg1090Trp
ENST00000281928.7:c.3268C>T	ENSP00000281928.3:p.Arg1090Trp
NM_015335.4:c.3268C>T	NP_056150.1:p.Arg1090Trp
XM_011538080.1:c.3268C>T	XP_011536382.1:p.Arg1090Trp
XM_011538081.1:c.3265C>T	XP_011536383.1:p.Arg1089Trp
XM_011538082.1:c.3238C>T	XP_011536384.1:p.Arg1080Trp
XM_011538080.2:c.3268C>T	XP_011536382.1:p.Arg1090Trp
XM_011538081.2:c.3265C>T	XP_011536383.1:p.Arg1089Trp
XM_011538082.2:c.3238C>T	XP_011536384.1:p.Arg1080Trp
XM_017019090.1:c.3265C>T	XP_016874579.1:p.Arg1089Trp
NM_015335.5:c.3268C>T MANE Select	NP_056150.1:p.Arg1090Trp