Canonical Allele Identifier: CA386927560

Gene: MED13L

Linked Data

• dbSNP Id: rs1391248881
• gnomAD v2: 12-116675434-G-A
• gnomAD v4: 12-116237629-G-A
• MyVariant Identifiers: chr12:g.116675434G>A (hg19) ; chr12:g.116237629G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116237629G>A , CM000674.2:g.116237629G>A	GRCh38
NC_000012.11:g.116675434G>A , CM000674.1:g.116675434G>A	GRCh37
NC_000012.10:g.115159817G>A	NCBI36
NG_023366.1:g.44558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.149C>T MANE Select	ENSP00000281928.3:p.Pro50Leu
ENST00000548743.2:c.119C>T	ENSP00000448553.2:p.Pro40Leu
ENST00000551197.2:c.99C>T
ENST00000647567.1:c.59C>T	ENSP00000497136.1:p.Pro20Leu
ENST00000650226.1:c.149C>T	ENSP00000496981.1:p.Pro50Leu
ENST00000650375.1:n.311C>T
ENST00000281928.7:c.149C>T	ENSP00000281928.3:p.Pro50Leu
ENST00000548743.1:c.119C>T	ENSP00000448553.1:p.Pro40Leu
ENST00000551197.1:n.99C>T
NM_015335.4:c.149C>T	NP_056150.1:p.Pro50Leu
XM_011538080.1:c.149C>T	XP_011536382.1:p.Pro50Leu
XM_011538081.1:c.149C>T	XP_011536383.1:p.Pro50Leu
XM_011538082.1:c.119C>T	XP_011536384.1:p.Pro40Leu
XM_011538080.2:c.149C>T	XP_011536382.1:p.Pro50Leu
XM_011538081.2:c.149C>T	XP_011536383.1:p.Pro50Leu
XM_011538082.2:c.119C>T	XP_011536384.1:p.Pro40Leu
XM_017019090.1:c.149C>T	XP_016874579.1:p.Pro50Leu
NM_015335.5:c.149C>T MANE Select	NP_056150.1:p.Pro50Leu