Canonical Allele Identifier: CA29059797

Gene: AMPD1

Linked Data

• dbSNP Id: rs1029814082
• gnomAD v3: 1-114684117-A-G
• gnomAD v4: 1-114684117-A-G
• MyVariant Identifiers: chr1:g.115226738A>G (hg19) ; chr1:g.114684117A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684117A>G , CM000663.2:g.114684117A>G	GRCh38
NC_000001.10:g.115226738A>G , CM000663.1:g.115226738A>G	GRCh37
NC_000001.9:g.115028261A>G	NCBI36
NG_008012.1:g.16439T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.535+82T>C	ENSP00000358551.4:n.535+82T>C
ENST00000520113.7:c.547+82T>C MANE Select	ENSP00000430075.3:n.547+82T>C
ENST00000637080.1:c.550+82T>C	ENSP00000489753.1:n.550+82T>C
ENST00000639077.1:n.212+82T>C
ENST00000369538.3:c.634+82T>C	ENSP00000358551.3:n.634+82T>C
ENST00000485564.3:n.421+82T>C
ENST00000520113.6:c.646+82T>C	ENSP00000430075.2:n.646+82T>C
NM_000036.2:c.646+82T>C	NP_000027.2:n.646+82T>C
NM_001172626.1:c.634+82T>C	NP_001166097.1:n.634+82T>C
NM_000036.3:c.547+82T>C MANE Select	NP_000027.3:n.547+82T>C
NM_001172626.2:c.535+82T>C	NP_001166097.2:n.535+82T>C