Canonical Allele Identifier: CA482137274

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2055951
• ClinVar RCV Id: RCV002947374
• dbSNP Id: rs1477751856
• gnomAD v2: 12-116429501-G-C
• gnomAD v3: 12-115991696-G-C
• gnomAD v4: 12-115991696-G-C
• MyVariant Identifiers: chr12:g.116429501G>C (hg19) ; chr12:g.115991696G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991696G>C , CM000674.2:g.115991696G>C	GRCh38
NC_000012.11:g.116429501G>C , CM000674.1:g.116429501G>C	GRCh37
NC_000012.10:g.114913884G>C	NCBI36
NG_023366.1:g.290491C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3258C>G MANE Select	ENSP00000281928.3:p.Pro1086=
ENST00000548743.2:c.3228C>G	ENSP00000448553.2:p.Pro1076=
ENST00000549786.2:c.2686C>G
ENST00000648173.1:n.2053C>G
ENST00000648379.1:n.1626C>G
ENST00000648737.1:n.3022C>G
ENST00000648916.1:n.1269C>G
ENST00000649607.1:c.1442C>G
ENST00000650226.1:c.3258C>G	ENSP00000496981.1:p.Pro1086=
ENST00000281928.7:c.3258C>G	ENSP00000281928.3:p.Pro1086=
NM_015335.4:c.3258C>G	NP_056150.1:p.Pro1086=
XM_011538080.1:c.3258C>G	XP_011536382.1:p.Pro1086=
XM_011538081.1:c.3255C>G	XP_011536383.1:p.Pro1085=
XM_011538082.1:c.3228C>G	XP_011536384.1:p.Pro1076=
XM_011538080.2:c.3258C>G	XP_011536382.1:p.Pro1086=
XM_011538081.2:c.3255C>G	XP_011536383.1:p.Pro1085=
XM_011538082.2:c.3228C>G	XP_011536384.1:p.Pro1076=
XM_017019090.1:c.3255C>G	XP_016874579.1:p.Pro1085=
NM_015335.5:c.3258C>G MANE Select	NP_056150.1:p.Pro1086=