Canonical Allele Identifier: CA244150296

Gene: MED13L

Linked Data

• dbSNP Id: rs990514616
• gnomAD v3: 12-115991900-C-T
• gnomAD v4: 12-115991900-C-T
• MyVariant Identifiers: chr12:g.116429705C>T (hg19) ; chr12:g.115991900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991900C>T , CM000674.2:g.115991900C>T	GRCh38
NC_000012.11:g.116429705C>T , CM000674.1:g.116429705C>T	GRCh37
NC_000012.10:g.114914088C>T	NCBI36
NG_023366.1:g.290287G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3054G>A MANE Select	ENSP00000281928.3:p.Met1018Ile
ENST00000548743.2:c.3024G>A	ENSP00000448553.2:p.Met1008Ile
ENST00000549786.2:c.2482G>A
ENST00000648173.1:n.1849G>A
ENST00000648379.1:n.1422G>A
ENST00000648737.1:n.2818G>A
ENST00000648916.1:n.1065G>A
ENST00000649607.1:c.1238G>A
ENST00000650226.1:c.3054G>A	ENSP00000496981.1:p.Met1018Ile
ENST00000281928.7:c.3054G>A	ENSP00000281928.3:p.Met1018Ile
NM_015335.4:c.3054G>A	NP_056150.1:p.Met1018Ile
XM_011538080.1:c.3054G>A	XP_011536382.1:p.Met1018Ile
XM_011538081.1:c.3051G>A	XP_011536383.1:p.Met1017Ile
XM_011538082.1:c.3024G>A	XP_011536384.1:p.Met1008Ile
XM_011538080.2:c.3054G>A	XP_011536382.1:p.Met1018Ile
XM_011538081.2:c.3051G>A	XP_011536383.1:p.Met1017Ile
XM_011538082.2:c.3024G>A	XP_011536384.1:p.Met1008Ile
XM_017019090.1:c.3051G>A	XP_016874579.1:p.Met1017Ile
NM_015335.5:c.3054G>A MANE Select	NP_056150.1:p.Met1018Ile