Canonical Allele Identifier: CA373511447
Gene: ALDH1B1 HGNC NCBI

Linked Data

gnomAD v4: 9-38396461-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396461T>G , CM000671.2:g.38396461T>G GRCh38
NC_000009.11:g.38396458T>G , CM000671.1:g.38396458T>G GRCh37
NC_000009.10:g.38386458T>G NCBI36
NG_012253.1:g.8757T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.713T>G MANE Select ENSP00000366927.3:p.Ile238Ser
ENST00000377698.3:c.713T>G ENSP00000366927.3:p.Ile238Ser
NM_000692.4:c.713T>G NP_000683.3:p.Ile238Ser
XM_011517802.1:c.713T>G XP_011516104.1:p.Ile238Ser
XM_011517802.2:c.713T>G XP_011516104.1:p.Ile238Ser
NM_000692.5:c.713T>G MANE Select NP_000683.3:p.Ile238Ser