Canonical Allele Identifier: CA2065396136

Gene: MED13L

Linked Data

• dbSNP Id: rs1878435802
• gnomAD v4: 12-115996808-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115996808T>C , CM000674.2:g.115996808T>C	GRCh38
NC_000012.11:g.116434613T>C , CM000674.1:g.116434613T>C	GRCh37
NC_000012.10:g.114918996T>C	NCBI36
NG_023366.1:g.285379A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2791-127A>G MANE Select	ENSP00000281928.3:n.2791-127A>G
ENST00000548743.2:c.2761-127A>G	ENSP00000448553.2:n.2761-127A>G
ENST00000549786.2:c.2219-127A>G
ENST00000647927.1:n.3164-127A>G
ENST00000648173.1:n.1586-127A>G
ENST00000648379.1:n.1159-127A>G
ENST00000648737.1:n.2555-127A>G
ENST00000648916.1:n.802-127A>G
ENST00000649607.1:c.975-127A>G
ENST00000650226.1:c.2791-127A>G	ENSP00000496981.1:n.2791-127A>G
ENST00000281928.7:c.2791-127A>G	ENSP00000281928.3:n.2791-127A>G
NM_015335.4:c.2791-127A>G	NP_056150.1:n.2791-127A>G
XM_011538080.1:c.2791-127A>G	XP_011536382.1:n.2791-127A>G
XM_011538081.1:c.2788-127A>G	XP_011536383.1:n.2788-127A>G
XM_011538082.1:c.2761-127A>G	XP_011536384.1:n.2761-127A>G
XM_011538080.2:c.2791-127A>G	XP_011536382.1:n.2791-127A>G
XM_011538081.2:c.2788-127A>G	XP_011536383.1:n.2788-127A>G
XM_011538082.2:c.2761-127A>G	XP_011536384.1:n.2761-127A>G
XM_017019090.1:c.2788-127A>G	XP_016874579.1:n.2788-127A>G
NM_015335.5:c.2791-127A>G MANE Select	NP_056150.1:n.2791-127A>G