Canonical Allele Identifier: CA1795164

Gene: COA5

Linked Data

• ClinVar Variation Id: 509861
• ClinVar RCV Id: RCV000604633
• dbSNP Id: rs370052087
• ExAC: 2:99224891 G / A
• gnomAD v2: 2-99224891-G-A
• gnomAD v3: 2-98608428-G-A
• gnomAD v4: 2-98608428-G-A
• MyVariant Identifiers: chr2:g.99224891G>A (hg19) ; chr2:g.98608428G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98608428G>A , CM000664.2:g.98608428G>A	GRCh38
NC_000002.11:g.99224891G>A , CM000664.1:g.99224891G>A	GRCh37
NC_000002.10:g.98591323G>A	NCBI36
NG_031918.1:g.5091C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328709.8:c.-23C>T MANE Select	ENSP00000330730.3:n.-23C>T
ENST00000328709.7:c.-23C>T	ENSP00000330730.3:n.-23C>T
ENST00000409997.1:c.-23C>T	ENSP00000386934.1:n.-23C>T
ENST00000483527.5:n.80C>T
NM_001008215.2:c.-23C>T	NP_001008216.1:n.-23C>T
NM_001008215.3:c.-23C>T MANE Select	NP_001008216.1:n.-23C>T