Canonical Allele Identifier: CA547999779

Gene: MECOM

Linked Data

• dbSNP Id: rs1236249367
• gnomAD v2: 3-169082573-C-G
• gnomAD v3: 3-169364785-C-G
• gnomAD v4: 3-169364785-C-G
• MyVariant Identifiers: chr3:g.169082573C>G (hg19) ; chr3:g.169364785C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169364785C>G , CM000665.2:g.169364785C>G	GRCh38
NC_000003.11:g.169082573C>G , CM000665.1:g.169082573C>G	GRCh37
NC_000003.10:g.170565267C>G	NCBI36
NG_028279.1:g.303991G>C
NG_028279.2:g.303991G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000494292.6:c.375+16402G>C	ENSP00000417899.1:n.375+16402G>C
ENST00000651503.2:c.375+16402G>C MANE Select	ENSP00000498411.1:n.375+16402G>C
ENST00000485957.1:n.621+16402G>C
ENST00000494292.5:c.375+16402G>C	ENSP00000417899.1:n.375+16402G>C
NM_001205194.1:c.-189-220953G>C	NP_001192123.1:n.-189-220953G>C
NM_004991.3:c.375+16402G>C	NP_004982.2:n.375+16402G>C
XM_005247213.2:c.375+16402G>C	XP_005247270.1:n.375+16402G>C
XM_005247214.2:c.375+16402G>C	XP_005247271.1:n.375+16402G>C
XM_005247215.2:c.375+16402G>C	XP_005247272.1:n.375+16402G>C
XM_005247224.2:c.375+16402G>C	XP_005247281.1:n.375+16402G>C
XM_005247225.2:c.375+16402G>C	XP_005247282.1:n.375+16402G>C
XM_005247226.2:c.375+16402G>C	XP_005247283.1:n.375+16402G>C
NM_001366466.1:c.375+16402G>C	NP_001353395.1:n.375+16402G>C
NM_001366473.1:c.375+16402G>C	NP_001353402.1:n.375+16402G>C
XM_005247213.3:c.375+16402G>C	XP_005247270.1:n.375+16402G>C
XM_005247214.3:c.375+16402G>C	XP_005247271.1:n.375+16402G>C
XM_005247224.3:c.375+16402G>C	XP_005247281.1:n.375+16402G>C
XM_005247225.4:c.375+16402G>C	XP_005247282.1:n.375+16402G>C
XM_017005877.1:c.375+16402G>C	XP_016861366.1:n.375+16402G>C
NM_001205194.2:c.-189-220953G>C	NP_001192123.1:n.-189-220953G>C
NM_001366466.2:c.375+16402G>C	NP_001353395.1:n.375+16402G>C
NM_001366473.2:c.375+16402G>C	NP_001353402.1:n.375+16402G>C
NM_004991.4:c.375+16402G>C MANE Select	NP_004982.2:n.375+16402G>C