Canonical Allele Identifier: CA244159192

Gene: MED13L

Linked Data

• dbSNP Id: rs140319345
• gnomAD v2: 12-116440753-A-G
• gnomAD v3: 12-116002948-A-G
• gnomAD v4: 12-116002948-A-G
• MyVariant Identifiers: chr12:g.116440753A>G (hg19) ; chr12:g.116002948A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116002948A>G , CM000674.2:g.116002948A>G	GRCh38
NC_000012.11:g.116440753A>G , CM000674.1:g.116440753A>G	GRCh37
NC_000012.10:g.114925136A>G	NCBI36
NG_023366.1:g.279239T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2569+55T>C MANE Select	ENSP00000281928.3:n.2569+55T>C
ENST00000548743.2:c.2539+55T>C	ENSP00000448553.2:n.2539+55T>C
ENST00000549786.2:c.1997+55T>C
ENST00000648173.1:n.1364+55T>C
ENST00000648379.1:n.937+55T>C
ENST00000648737.1:n.2333+55T>C
ENST00000648916.1:n.580+55T>C
ENST00000649607.1:c.756+55T>C
ENST00000650226.1:c.2569+55T>C	ENSP00000496981.1:n.2569+55T>C
ENST00000281928.7:c.2569+55T>C	ENSP00000281928.3:n.2569+55T>C
NM_015335.4:c.2569+55T>C	NP_056150.1:n.2569+55T>C
XM_011538080.1:c.2569+55T>C	XP_011536382.1:n.2569+55T>C
XM_011538081.1:c.2569+55T>C	XP_011536383.1:n.2569+55T>C
XM_011538082.1:c.2539+55T>C	XP_011536384.1:n.2539+55T>C
XM_011538080.2:c.2569+55T>C	XP_011536382.1:n.2569+55T>C
XM_011538081.2:c.2569+55T>C	XP_011536383.1:n.2569+55T>C
XM_011538082.2:c.2539+55T>C	XP_011536384.1:n.2539+55T>C
XM_017019090.1:c.2569+55T>C	XP_016874579.1:n.2569+55T>C
NM_015335.5:c.2569+55T>C MANE Select	NP_056150.1:n.2569+55T>C