Canonical Allele Identifier: CA6811119

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2036967
• ClinVar RCV Id: RCV002899542
• dbSNP Id: rs747695084
• ExAC: 12:116434984 T / G
• gnomAD v2: 12-116434984-T-G
• gnomAD v3: 12-115997179-T-G
• gnomAD v4: 12-115997179-T-G
• MyVariant Identifiers: chr12:g.116434984T>G (hg19) ; chr12:g.115997179T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997179T>G , CM000674.2:g.115997179T>G	GRCh38
NC_000012.11:g.116434984T>G , CM000674.1:g.116434984T>G	GRCh37
NC_000012.10:g.114919367T>G	NCBI36
NG_023366.1:g.285008A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2621A>C MANE Select	ENSP00000281928.3:p.His874Pro
ENST00000548743.2:c.2591A>C	ENSP00000448553.2:p.His864Pro
ENST00000549786.2:c.2049A>C
ENST00000647927.1:n.2994A>C
ENST00000648173.1:n.1416A>C
ENST00000648379.1:n.989A>C
ENST00000648737.1:n.2385A>C
ENST00000648916.1:n.632A>C
ENST00000649607.1:c.805A>C
ENST00000650226.1:c.2621A>C	ENSP00000496981.1:p.His874Pro
ENST00000281928.7:c.2621A>C	ENSP00000281928.3:p.His874Pro
NM_015335.4:c.2621A>C	NP_056150.1:p.His874Pro
XM_011538080.1:c.2621A>C	XP_011536382.1:p.His874Pro
XM_011538081.1:c.2618A>C	XP_011536383.1:p.His873Pro
XM_011538082.1:c.2591A>C	XP_011536384.1:p.His864Pro
XM_011538080.2:c.2621A>C	XP_011536382.1:p.His874Pro
XM_011538081.2:c.2618A>C	XP_011536383.1:p.His873Pro
XM_011538082.2:c.2591A>C	XP_011536384.1:p.His864Pro
XM_017019090.1:c.2618A>C	XP_016874579.1:p.His873Pro
NM_015335.5:c.2621A>C MANE Select	NP_056150.1:p.His874Pro