Canonical Allele Identifier: CA244150312

Gene: MED13L

Linked Data

• dbSNP Id: rs200115442
• gnomAD v3: 12-115991908-G-T
• gnomAD v4: 12-115991908-G-T
• MyVariant Identifiers: chr12:g.116429713G>T (hg19) ; chr12:g.115991908G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991908G>T , CM000674.2:g.115991908G>T	GRCh38
NC_000012.11:g.116429713G>T , CM000674.1:g.116429713G>T	GRCh37
NC_000012.10:g.114914096G>T	NCBI36
NG_023366.1:g.290279C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3046C>A MANE Select	ENSP00000281928.3:p.Pro1016Thr
ENST00000548743.2:c.3016C>A	ENSP00000448553.2:p.Pro1006Thr
ENST00000549786.2:c.2474C>A
ENST00000648173.1:n.1841C>A
ENST00000648379.1:n.1414C>A
ENST00000648737.1:n.2810C>A
ENST00000648916.1:n.1057C>A
ENST00000649607.1:c.1230C>A
ENST00000650226.1:c.3046C>A	ENSP00000496981.1:p.Pro1016Thr
ENST00000281928.7:c.3046C>A	ENSP00000281928.3:p.Pro1016Thr
NM_015335.4:c.3046C>A	NP_056150.1:p.Pro1016Thr
XM_011538080.1:c.3046C>A	XP_011536382.1:p.Pro1016Thr
XM_011538081.1:c.3043C>A	XP_011536383.1:p.Pro1015Thr
XM_011538082.1:c.3016C>A	XP_011536384.1:p.Pro1006Thr
XM_011538080.2:c.3046C>A	XP_011536382.1:p.Pro1016Thr
XM_011538081.2:c.3043C>A	XP_011536383.1:p.Pro1015Thr
XM_011538082.2:c.3016C>A	XP_011536384.1:p.Pro1006Thr
XM_017019090.1:c.3043C>A	XP_016874579.1:p.Pro1015Thr
NM_015335.5:c.3046C>A MANE Select	NP_056150.1:p.Pro1016Thr