Canonical Allele Identifier: CA6811094

Gene: MED13L

Linked Data

• dbSNP Id: rs780099245
• ExAC: 12:116434476 T / A
• gnomAD v2: 12-116434476-T-A
• gnomAD v4: 12-115996671-T-A
• MyVariant Identifiers: chr12:g.116434476T>A (hg19) ; chr12:g.115996671T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115996671T>A , CM000674.2:g.115996671T>A	GRCh38
NC_000012.11:g.116434476T>A , CM000674.1:g.116434476T>A	GRCh37
NC_000012.10:g.114918859T>A	NCBI36
NG_023366.1:g.285516A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2801A>T MANE Select	ENSP00000281928.3:p.Tyr934Phe
ENST00000548743.2:c.2771A>T	ENSP00000448553.2:p.Tyr924Phe
ENST00000549786.2:c.2229A>T
ENST00000647927.1:n.3174A>T
ENST00000648173.1:n.1596A>T
ENST00000648379.1:n.1169A>T
ENST00000648737.1:n.2565A>T
ENST00000648916.1:n.812A>T
ENST00000649607.1:c.985A>T
ENST00000650226.1:c.2801A>T	ENSP00000496981.1:p.Tyr934Phe
ENST00000281928.7:c.2801A>T	ENSP00000281928.3:p.Tyr934Phe
NM_015335.4:c.2801A>T	NP_056150.1:p.Tyr934Phe
XM_011538080.1:c.2801A>T	XP_011536382.1:p.Tyr934Phe
XM_011538081.1:c.2798A>T	XP_011536383.1:p.Tyr933Phe
XM_011538082.1:c.2771A>T	XP_011536384.1:p.Tyr924Phe
XM_011538080.2:c.2801A>T	XP_011536382.1:p.Tyr934Phe
XM_011538081.2:c.2798A>T	XP_011536383.1:p.Tyr933Phe
XM_011538082.2:c.2771A>T	XP_011536384.1:p.Tyr924Phe
XM_017019090.1:c.2798A>T	XP_016874579.1:p.Tyr933Phe
NM_015335.5:c.2801A>T MANE Select	NP_056150.1:p.Tyr934Phe