Canonical Allele Identifier: CA684026881

Gene: MED13L

Linked Data

• dbSNP Id: rs1438007822
• gnomAD v3: 12-115996879-A-C
• gnomAD v4: 12-115996879-A-C
• MyVariant Identifiers: chr12:g.116434684A>C (hg19) ; chr12:g.115996879A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115996879A>C , CM000674.2:g.115996879A>C	GRCh38
NC_000012.11:g.116434684A>C , CM000674.1:g.116434684A>C	GRCh37
NC_000012.10:g.114919067A>C	NCBI36
NG_023366.1:g.285308T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2790+131T>G MANE Select	ENSP00000281928.3:n.2790+131T>G
ENST00000548743.2:c.2760+131T>G	ENSP00000448553.2:n.2760+131T>G
ENST00000549786.2:c.2218+131T>G
ENST00000647927.1:n.3163+131T>G
ENST00000648173.1:n.1585+131T>G
ENST00000648379.1:n.1158+131T>G
ENST00000648737.1:n.2554+131T>G
ENST00000648916.1:n.801+131T>G
ENST00000649607.1:c.974+131T>G
ENST00000650226.1:c.2790+131T>G	ENSP00000496981.1:n.2790+131T>G
ENST00000281928.7:c.2790+131T>G	ENSP00000281928.3:n.2790+131T>G
NM_015335.4:c.2790+131T>G	NP_056150.1:n.2790+131T>G
XM_011538080.1:c.2790+131T>G	XP_011536382.1:n.2790+131T>G
XM_011538081.1:c.2787+131T>G	XP_011536383.1:n.2787+131T>G
XM_011538082.1:c.2760+131T>G	XP_011536384.1:n.2760+131T>G
XM_011538080.2:c.2790+131T>G	XP_011536382.1:n.2790+131T>G
XM_011538081.2:c.2787+131T>G	XP_011536383.1:n.2787+131T>G
XM_011538082.2:c.2760+131T>G	XP_011536384.1:n.2760+131T>G
XM_017019090.1:c.2787+131T>G	XP_016874579.1:n.2787+131T>G
NM_015335.5:c.2790+131T>G MANE Select	NP_056150.1:n.2790+131T>G