Canonical Allele Identifier: CA386890567

Gene: MED13L

Linked Data

• dbSNP Id: rs1438717722
• gnomAD v2: 12-116434891-A-T
• gnomAD v4: 12-115997086-A-T
• MyVariant Identifiers: chr12:g.116434891A>T (hg19) ; chr12:g.115997086A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997086A>T , CM000674.2:g.115997086A>T	GRCh38
NC_000012.11:g.116434891A>T , CM000674.1:g.116434891A>T	GRCh37
NC_000012.10:g.114919274A>T	NCBI36
NG_023366.1:g.285101T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2714T>A MANE Select	ENSP00000281928.3:p.Met905Lys
ENST00000548743.2:c.2684T>A	ENSP00000448553.2:p.Met895Lys
ENST00000549786.2:c.2142T>A
ENST00000647927.1:n.3087T>A
ENST00000648173.1:n.1509T>A
ENST00000648379.1:n.1082T>A
ENST00000648737.1:n.2478T>A
ENST00000648916.1:n.725T>A
ENST00000649607.1:c.898T>A
ENST00000650226.1:c.2714T>A	ENSP00000496981.1:p.Met905Lys
ENST00000281928.7:c.2714T>A	ENSP00000281928.3:p.Met905Lys
NM_015335.4:c.2714T>A	NP_056150.1:p.Met905Lys
XM_011538080.1:c.2714T>A	XP_011536382.1:p.Met905Lys
XM_011538081.1:c.2711T>A	XP_011536383.1:p.Met904Lys
XM_011538082.1:c.2684T>A	XP_011536384.1:p.Met895Lys
XM_011538080.2:c.2714T>A	XP_011536382.1:p.Met905Lys
XM_011538081.2:c.2711T>A	XP_011536383.1:p.Met904Lys
XM_011538082.2:c.2684T>A	XP_011536384.1:p.Met895Lys
XM_017019090.1:c.2711T>A	XP_016874579.1:p.Met904Lys
NM_015335.5:c.2714T>A MANE Select	NP_056150.1:p.Met905Lys