Canonical Allele Identifier: CA6811034

Gene: MED13L

Linked Data

• ClinVar Variation Id: 415971
• ClinVar RCV Id: RCV000472698 ; RCV003392299
• dbSNP Id: rs142191700
• ExAC: 12:116429696 G / A
• gnomAD v2: 12-116429696-G-A
• gnomAD v3: 12-115991891-G-A
• gnomAD v4: 12-115991891-G-A
• MyVariant Identifiers: chr12:g.116429696G>A (hg19) ; chr12:g.115991891G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991891G>A , CM000674.2:g.115991891G>A	GRCh38
NC_000012.11:g.116429696G>A , CM000674.1:g.116429696G>A	GRCh37
NC_000012.10:g.114914079G>A	NCBI36
NG_023366.1:g.290296C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3063C>T MANE Select	ENSP00000281928.3:p.Pro1021=
ENST00000548743.2:c.3033C>T	ENSP00000448553.2:p.Pro1011=
ENST00000549786.2:c.2491C>T
ENST00000648173.1:n.1858C>T
ENST00000648379.1:n.1431C>T
ENST00000648737.1:n.2827C>T
ENST00000648916.1:n.1074C>T
ENST00000649607.1:c.1247C>T
ENST00000650226.1:c.3063C>T	ENSP00000496981.1:p.Pro1021=
ENST00000281928.7:c.3063C>T	ENSP00000281928.3:p.Pro1021=
NM_015335.4:c.3063C>T	NP_056150.1:p.Pro1021=
XM_011538080.1:c.3063C>T	XP_011536382.1:p.Pro1021=
XM_011538081.1:c.3060C>T	XP_011536383.1:p.Pro1020=
XM_011538082.1:c.3033C>T	XP_011536384.1:p.Pro1011=
XM_011538080.2:c.3063C>T	XP_011536382.1:p.Pro1021=
XM_011538081.2:c.3060C>T	XP_011536383.1:p.Pro1020=
XM_011538082.2:c.3033C>T	XP_011536384.1:p.Pro1011=
XM_017019090.1:c.3060C>T	XP_016874579.1:p.Pro1020=
NM_015335.5:c.3063C>T MANE Select	NP_056150.1:p.Pro1021=