Canonical Allele Identifier: CA244153980

Gene: MED13L

Linked Data

• dbSNP Id: rs1012330863
• gnomAD v2: 12-116434519-T-C
• gnomAD v4: 12-115996714-T-C
• MyVariant Identifiers: chr12:g.116434519T>C (hg19) ; chr12:g.115996714T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115996714T>C , CM000674.2:g.115996714T>C	GRCh38
NC_000012.11:g.116434519T>C , CM000674.1:g.116434519T>C	GRCh37
NC_000012.10:g.114918902T>C	NCBI36
NG_023366.1:g.285473A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2791-33A>G MANE Select	ENSP00000281928.3:n.2791-33A>G
ENST00000548743.2:c.2761-33A>G	ENSP00000448553.2:n.2761-33A>G
ENST00000549786.2:c.2219-33A>G
ENST00000647927.1:n.3164-33A>G
ENST00000648173.1:n.1586-33A>G
ENST00000648379.1:n.1159-33A>G
ENST00000648737.1:n.2555-33A>G
ENST00000648916.1:n.802-33A>G
ENST00000649607.1:c.975-33A>G
ENST00000650226.1:c.2791-33A>G	ENSP00000496981.1:n.2791-33A>G
ENST00000281928.7:c.2791-33A>G	ENSP00000281928.3:n.2791-33A>G
NM_015335.4:c.2791-33A>G	NP_056150.1:n.2791-33A>G
XM_011538080.1:c.2791-33A>G	XP_011536382.1:n.2791-33A>G
XM_011538081.1:c.2788-33A>G	XP_011536383.1:n.2788-33A>G
XM_011538082.1:c.2761-33A>G	XP_011536384.1:n.2761-33A>G
XM_011538080.2:c.2791-33A>G	XP_011536382.1:n.2791-33A>G
XM_011538081.2:c.2788-33A>G	XP_011536383.1:n.2788-33A>G
XM_011538082.2:c.2761-33A>G	XP_011536384.1:n.2761-33A>G
XM_017019090.1:c.2788-33A>G	XP_016874579.1:n.2788-33A>G
NM_015335.5:c.2791-33A>G MANE Select	NP_056150.1:n.2791-33A>G