Canonical Allele Identifier: CA244150358

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2853110
• ClinVar RCV Id: RCV003604949
• dbSNP Id: rs916455934
• gnomAD v2: 12-116429744-C-G
• gnomAD v3: 12-115991939-C-G
• gnomAD v4: 12-115991939-C-G
• MyVariant Identifiers: chr12:g.116429744C>G (hg19) ; chr12:g.115991939C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991939C>G , CM000674.2:g.115991939C>G	GRCh38
NC_000012.11:g.116429744C>G , CM000674.1:g.116429744C>G	GRCh37
NC_000012.10:g.114914127C>G	NCBI36
NG_023366.1:g.290248G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3015G>C MANE Select	ENSP00000281928.3:p.Gly1005=
ENST00000548743.2:c.2985G>C	ENSP00000448553.2:p.Gly995=
ENST00000549786.2:c.2443G>C
ENST00000648173.1:n.1810G>C
ENST00000648379.1:n.1383G>C
ENST00000648737.1:n.2779G>C
ENST00000648916.1:n.1026G>C
ENST00000649607.1:c.1199G>C
ENST00000650226.1:c.3015G>C	ENSP00000496981.1:p.Gly1005=
ENST00000281928.7:c.3015G>C	ENSP00000281928.3:p.Gly1005=
NM_015335.4:c.3015G>C	NP_056150.1:p.Gly1005=
XM_011538080.1:c.3015G>C	XP_011536382.1:p.Gly1005=
XM_011538081.1:c.3012G>C	XP_011536383.1:p.Gly1004=
XM_011538082.1:c.2985G>C	XP_011536384.1:p.Gly995=
XM_011538080.2:c.3015G>C	XP_011536382.1:p.Gly1005=
XM_011538081.2:c.3012G>C	XP_011536383.1:p.Gly1004=
XM_011538082.2:c.2985G>C	XP_011536384.1:p.Gly995=
XM_017019090.1:c.3012G>C	XP_016874579.1:p.Gly1004=
NM_015335.5:c.3015G>C MANE Select	NP_056150.1:p.Gly1005=