Canonical Allele Identifier: CA244141334

Gene: MED13L

Linked Data

• dbSNP Id: rs940354349
• gnomAD v2: 12-116420344-G-A
• gnomAD v4: 12-115982539-G-A
• MyVariant Identifiers: chr12:g.116420344G>A (hg19) ; chr12:g.115982539G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982539G>A , CM000674.2:g.115982539G>A	GRCh38
NC_000012.11:g.116420344G>A , CM000674.1:g.116420344G>A	GRCh37
NC_000012.10:g.114904727G>A	NCBI36
NG_023366.1:g.299648C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5020C>T MANE Select	ENSP00000281928.3:p.Pro1674Ser
ENST00000549786.2:c.4448C>T
ENST00000648379.1:n.3388C>T
ENST00000648737.1:n.4784C>T
ENST00000648825.1:n.1760C>T
ENST00000648916.1:n.3031C>T
ENST00000649146.1:n.2263C>T
ENST00000649607.1:c.3204C>T
ENST00000649775.1:c.1509C>T
ENST00000650226.1:c.5020C>T	ENSP00000496981.1:p.Pro1674Ser
ENST00000281928.7:c.5020C>T	ENSP00000281928.3:p.Pro1674Ser
ENST00000549786.1:c.384C>T
ENST00000552340.1:c.52C>T	ENSP00000449876.1:p.Pro18Ser
NM_015335.4:c.5020C>T	NP_056150.1:p.Pro1674Ser
XM_011538080.1:c.5020C>T	XP_011536382.1:p.Pro1674Ser
XM_011538081.1:c.5017C>T	XP_011536383.1:p.Pro1673Ser
XM_011538082.1:c.4990C>T	XP_011536384.1:p.Pro1664Ser
XM_011538080.2:c.5020C>T	XP_011536382.1:p.Pro1674Ser
XM_011538081.2:c.5017C>T	XP_011536383.1:p.Pro1673Ser
XM_011538082.2:c.4990C>T	XP_011536384.1:p.Pro1664Ser
XM_017019090.1:c.5017C>T	XP_016874579.1:p.Pro1673Ser
NM_015335.5:c.5020C>T MANE Select	NP_056150.1:p.Pro1674Ser