Canonical Allele Identifier: CA386888619

Gene: MED13L

Linked Data

• dbSNP Id: rs1592924207
• gnomAD v4: 12-115991725-T-G
• MyVariant Identifiers: chr12:g.116429530T>G (hg19) ; chr12:g.115991725T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991725T>G , CM000674.2:g.115991725T>G	GRCh38
NC_000012.11:g.116429530T>G , CM000674.1:g.116429530T>G	GRCh37
NC_000012.10:g.114913913T>G	NCBI36
NG_023366.1:g.290462A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3229A>C MANE Select	ENSP00000281928.3:p.Thr1077Pro
ENST00000548743.2:c.3199A>C	ENSP00000448553.2:p.Thr1067Pro
ENST00000549786.2:c.2657A>C
ENST00000648173.1:n.2024A>C
ENST00000648379.1:n.1597A>C
ENST00000648737.1:n.2993A>C
ENST00000648916.1:n.1240A>C
ENST00000649607.1:c.1413A>C
ENST00000650226.1:c.3229A>C	ENSP00000496981.1:p.Thr1077Pro
ENST00000281928.7:c.3229A>C	ENSP00000281928.3:p.Thr1077Pro
NM_015335.4:c.3229A>C	NP_056150.1:p.Thr1077Pro
XM_011538080.1:c.3229A>C	XP_011536382.1:p.Thr1077Pro
XM_011538081.1:c.3226A>C	XP_011536383.1:p.Thr1076Pro
XM_011538082.1:c.3199A>C	XP_011536384.1:p.Thr1067Pro
XM_011538080.2:c.3229A>C	XP_011536382.1:p.Thr1077Pro
XM_011538081.2:c.3226A>C	XP_011536383.1:p.Thr1076Pro
XM_011538082.2:c.3199A>C	XP_011536384.1:p.Thr1067Pro
XM_017019090.1:c.3226A>C	XP_016874579.1:p.Thr1076Pro
NM_015335.5:c.3229A>C MANE Select	NP_056150.1:p.Thr1077Pro