Canonical Allele Identifier: CA14668263

Gene: PEAK3

Linked Data

• dbSNP Id: rs2523178
• gnomAD v2: 19-2275079-A-G
• gnomAD v3: 19-2275080-A-G
• gnomAD v4: 19-2275080-A-G
• MyVariant Identifiers: chr19:g.2275079A>G (hg19) ; chr19:g.2275080A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2275080A>G , CM000681.2:g.2275080A>G	GRCh38
NC_000019.9:g.2275079A>G , CM000681.1:g.2275079A>G	GRCh37
NC_000019.8:g.2226079A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000342063.5:c.*600T>C MANE Select	ENSP00000345102.3:n.*600T>C
ENST00000342063.4:c.*600T>C	ENSP00000345102.3:n.*600T>C
ENST00000621615.1:c.146+5336A>G	ENSP00000481965.1:n.146+5336A>G
NM_198532.2:c.*600T>C	NP_940934.1:n.*600T>C
NM_198532.3:c.*600T>C MANE Select	NP_940934.1:n.*600T>C