Canonical Allele Identifier: CA2579342654
Gene: ALDH1B1 HGNC NCBI

Linked Data

gnomAD v4: 9-38396961-G-GGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396963_38396964dup , CM000671.2:g.38396963_38396964dup GRCh38
NC_000009.11:g.38396960_38396961dup , CM000671.1:g.38396960_38396961dup GRCh37
NC_000009.10:g.38386960_38386961dup NCBI36
NG_012253.1:g.9259_9260dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1215_1216dup MANE Select ENSP00000366927.3:p.Val406AlafsTer6
ENST00000377698.3:c.1215_1216dup ENSP00000366927.3:p.Val406AlafsTer6
NM_000692.4:c.1215_1216dup NP_000683.3:p.Val406AlafsTer6
XM_011517802.1:c.1215_1216dup XP_011516104.1:p.Val406AlafsTer6
XM_011517802.2:c.1215_1216dup XP_011516104.1:p.Val406AlafsTer6
NM_000692.5:c.1215_1216dup MANE Select NP_000683.3:p.Val406AlafsTer6
Search 100 bp 5'
Search 100 bp 3'