Canonical Allele Identifier: CA357246662
Gene: ALB HGNC NCBI

Linked Data

dbSNP Id: rs1292482317
gnomAD v2: 4-74285340-C-G
gnomAD v3: 4-73419623-C-G
gnomAD v4: 4-73419623-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73419623C>G , CM000666.2:g.73419623C>G GRCh38
NC_000004.11:g.74285340C>G , CM000666.1:g.74285340C>G GRCh37
NC_000004.10:g.74504204C>G NCBI36
NG_009291.1:g.20369C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295897.9:c.1769C>G MANE Select ENSP00000295897.4:p.Thr590Ser
ENST00000295897.8:c.1769C>G ENSP00000295897.4:p.Thr590Ser
ENST00000401494.7:c.1424C>G ENSP00000384695.3:p.Thr475Ser
ENST00000415165.6:c.1193C>G ENSP00000401820.2:p.Thr398Ser
ENST00000476441.6:c.*1048C>G ENSP00000423727.1:n.*1048C>G
ENST00000495173.1:n.77C>G
ENST00000503124.5:c.1319C>G ENSP00000421027.1:p.Thr440Ser
ENST00000505649.5:n.1316C>G
ENST00000508932.5:n.175+168C>G
ENST00000509063.5:c.1769C>G ENSP00000422784.1:p.Thr590Ser
ENST00000511370.1:c.1302C>G
ENST00000621085.4:c.1130C>G ENSP00000483421.1:p.Thr377Ser
ENST00000621628.4:c.1130C>G ENSP00000480485.1:p.Thr377Ser
NM_000477.5:c.1769C>G NP_000468.1:p.Thr590Ser
NM_000477.6:c.1769C>G NP_000468.1:p.Thr590Ser
NM_000477.7:c.1769C>G MANE Select NP_000468.1:p.Thr590Ser