Canonical Allele Identifier: CA386881072

Gene: MED13L

Linked Data

• gnomAD v3: 12-115982424-T-G
• gnomAD v4: 12-115982424-T-G
• MyVariant Identifiers: chr12:g.116420229T>G (hg19) ; chr12:g.115982424T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982424T>G , CM000674.2:g.115982424T>G	GRCh38
NC_000012.11:g.116420229T>G , CM000674.1:g.116420229T>G	GRCh37
NC_000012.10:g.114904612T>G	NCBI36
NG_023366.1:g.299763A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5135A>C MANE Select	ENSP00000281928.3:p.Asp1712Ala
ENST00000549786.2:c.4563A>C
ENST00000648379.1:n.3503A>C
ENST00000648737.1:n.4899A>C
ENST00000648825.1:n.1875A>C
ENST00000648916.1:n.3146A>C
ENST00000649146.1:n.2378A>C
ENST00000649607.1:c.3319A>C
ENST00000649775.1:c.1624A>C
ENST00000650226.1:c.5135A>C	ENSP00000496981.1:p.Asp1712Ala
ENST00000281928.7:c.5135A>C	ENSP00000281928.3:p.Asp1712Ala
ENST00000549786.1:c.499A>C
ENST00000552340.1:c.167A>C	ENSP00000449876.1:p.Asp56Ala
NM_015335.4:c.5135A>C	NP_056150.1:p.Asp1712Ala
XM_011538080.1:c.5135A>C	XP_011536382.1:p.Asp1712Ala
XM_011538081.1:c.5132A>C	XP_011536383.1:p.Asp1711Ala
XM_011538082.1:c.5105A>C	XP_011536384.1:p.Asp1702Ala
XM_011538080.2:c.5135A>C	XP_011536382.1:p.Asp1712Ala
XM_011538081.2:c.5132A>C	XP_011536383.1:p.Asp1711Ala
XM_011538082.2:c.5105A>C	XP_011536384.1:p.Asp1702Ala
XM_017019090.1:c.5132A>C	XP_016874579.1:p.Asp1711Ala
NM_015335.5:c.5135A>C MANE Select	NP_056150.1:p.Asp1712Ala