Canonical Allele Identifier: CA357244124
Gene: ALB HGNC NCBI

Linked Data

dbSNP Id: rs1719061317
gnomAD v3: 4-73418098-T-C
gnomAD v4: 4-73418098-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73418098T>C , CM000666.2:g.73418098T>C GRCh38
NC_000004.11:g.74283815T>C , CM000666.1:g.74283815T>C GRCh37
NC_000004.10:g.74502679T>C NCBI36
NG_009291.1:g.18844T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295897.9:c.1439T>C MANE Select ENSP00000295897.4:p.Val480Ala
ENST00000295897.8:c.1439T>C ENSP00000295897.4:p.Val480Ala
ENST00000401494.7:c.1094T>C ENSP00000384695.3:p.Val365Ala
ENST00000415165.6:c.863T>C ENSP00000401820.2:p.Val288Ala
ENST00000476441.6:c.*718T>C ENSP00000423727.1:n.*718T>C
ENST00000486939.1:n.93T>C
ENST00000503124.5:c.989T>C ENSP00000421027.1:p.Val330Ala
ENST00000505649.5:n.986T>C
ENST00000509063.5:c.1439T>C ENSP00000422784.1:p.Val480Ala
ENST00000511370.1:c.972T>C
ENST00000621085.4:c.800T>C ENSP00000483421.1:p.Val267Ala
ENST00000621628.4:c.800T>C ENSP00000480485.1:p.Val267Ala
NM_000477.5:c.1439T>C NP_000468.1:p.Val480Ala
NM_000477.6:c.1439T>C NP_000468.1:p.Val480Ala
NM_000477.7:c.1439T>C MANE Select NP_000468.1:p.Val480Ala