Canonical Allele Identifier: CA1064142617
Gene: ALB HGNC NCBI

Linked Data

dbSNP Id: rs1719102798
gnomAD v3: 4-73419833-T-C
gnomAD v4: 4-73419833-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73419833T>C , CM000666.2:g.73419833T>C GRCh38
NC_000004.11:g.74285550T>C , CM000666.1:g.74285550T>C GRCh37
NC_000004.10:g.74504414T>C NCBI36
NG_009291.1:g.20579T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295897.9:c.1785+194T>C MANE Select ENSP00000295897.4:n.1785+194T>C
ENST00000295897.8:c.1785+194T>C ENSP00000295897.4:n.1785+194T>C
ENST00000401494.7:c.1440+194T>C ENSP00000384695.3:n.1440+194T>C
ENST00000415165.6:c.1209+194T>C ENSP00000401820.2:n.1209+194T>C
ENST00000476441.6:c.*1064+194T>C ENSP00000423727.1:n.*1064+194T>C
ENST00000495173.1:n.93+194T>C
ENST00000503124.5:c.1335+194T>C ENSP00000421027.1:n.1335+194T>C
ENST00000505649.5:n.1332+194T>C
ENST00000508932.5:n.175+378T>C
ENST00000509063.5:c.1785+194T>C ENSP00000422784.1:n.1785+194T>C
ENST00000511370.1:c.1318+194T>C
ENST00000621085.4:c.1146+194T>C ENSP00000483421.1:n.1146+194T>C
ENST00000621628.4:c.1146+194T>C ENSP00000480485.1:n.1146+194T>C
NM_000477.5:c.1785+194T>C NP_000468.1:n.1785+194T>C
NM_000477.6:c.1785+194T>C NP_000468.1:n.1785+194T>C
NM_000477.7:c.1785+194T>C MANE Select NP_000468.1:n.1785+194T>C