Canonical Allele Identifier: CA481949543

Gene: MED13L

Linked Data

• gnomAD v4: 12-115997088-A-G
• MyVariant Identifiers: chr12:g.116434893A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997088A>G , CM000674.2:g.115997088A>G	GRCh38
NC_000012.11:g.116434893A>G , CM000674.1:g.116434893A>G	GRCh37
NC_000012.10:g.114919276A>G	NCBI36
NG_023366.1:g.285099T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2712T>C MANE Select	ENSP00000281928.3:p.Ser904=
ENST00000548743.2:c.2682T>C	ENSP00000448553.2:p.Ser894=
ENST00000549786.2:c.2140T>C
ENST00000647927.1:n.3085T>C
ENST00000648173.1:n.1507T>C
ENST00000648379.1:n.1080T>C
ENST00000648737.1:n.2476T>C
ENST00000648916.1:n.723T>C
ENST00000649607.1:c.896T>C
ENST00000650226.1:c.2712T>C	ENSP00000496981.1:p.Ser904=
ENST00000281928.7:c.2712T>C	ENSP00000281928.3:p.Ser904=
NM_015335.4:c.2712T>C	NP_056150.1:p.Ser904=
XM_011538080.1:c.2712T>C	XP_011536382.1:p.Ser904=
XM_011538081.1:c.2709T>C	XP_011536383.1:p.Ser903=
XM_011538082.1:c.2682T>C	XP_011536384.1:p.Ser894=
XM_011538080.2:c.2712T>C	XP_011536382.1:p.Ser904=
XM_011538081.2:c.2709T>C	XP_011536383.1:p.Ser903=
XM_011538082.2:c.2682T>C	XP_011536384.1:p.Ser894=
XM_017019090.1:c.2709T>C	XP_016874579.1:p.Ser903=
NM_015335.5:c.2712T>C MANE Select	NP_056150.1:p.Ser904=