Canonical Allele Identifier: CA1020409

Gene: AMPD1

Linked Data

• dbSNP Id: rs759938965
• ExAC: 1:115226831 C / G
• gnomAD v2: 1-115226831-C-G
• MyVariant Identifiers: chr1:g.115226831C>G (hg19) ; chr1:g.114684210C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684210C>G , CM000663.2:g.114684210C>G	GRCh38
NC_000001.10:g.115226831C>G , CM000663.1:g.115226831C>G	GRCh37
NC_000001.9:g.115028354C>G	NCBI36
NG_008012.1:g.16346G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.524G>C	ENSP00000358551.4:p.Ser175Thr
ENST00000520113.7:c.536G>C MANE Select	ENSP00000430075.3:p.Ser179Thr
ENST00000637080.1:c.539G>C	ENSP00000489753.1:p.Ser180Thr
ENST00000639077.1:n.201G>C
ENST00000369538.3:c.623G>C	ENSP00000358551.3:p.Ser208Thr
ENST00000485564.3:n.410G>C
ENST00000520113.6:c.635G>C	ENSP00000430075.2:p.Ser212Thr
NM_000036.2:c.635G>C	NP_000027.2:p.Ser212Thr
NM_001172626.1:c.623G>C	NP_001166097.1:p.Ser208Thr
NM_000036.3:c.536G>C MANE Select	NP_000027.3:p.Ser179Thr
NM_001172626.2:c.524G>C	NP_001166097.2:p.Ser175Thr