Canonical Allele Identifier: CA357479928
Gene: ADH4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99127307G>A , CM000666.2:g.99127307G>A GRCh38
NC_000004.11:g.100048458G>A , CM000666.1:g.100048458G>A GRCh37
NC_000004.10:g.100267481G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265512.12:c.881C>T MANE Select ENSP00000265512.7:p.Ser294Leu
ENST00000265512.11:c.881C>T ENSP00000265512.7:p.Ser294Leu
ENST00000505590.5:c.938C>T ENSP00000425416.1:p.Ser313Leu
ENST00000506705.5:c.*855C>T ENSP00000426667.1:n.*855C>T
ENST00000508393.5:c.938C>T ENSP00000424630.1:p.Ser313Leu
ENST00000509471.5:c.334-575C>T ENSP00000424583.1:n.334-575C>T
ENST00000629236.2:c.881C>T ENSP00000486450.1:p.Ser294Leu
NM_000670.3:c.881C>T NP_000661.2:p.Ser294Leu
NM_000670.4:c.881C>T NP_000661.2:p.Ser294Leu
NM_001306171.1:c.938C>T NP_001293100.1:p.Ser313Leu
NM_001306172.1:c.938C>T NP_001293101.1:p.Ser313Leu
NR_037884.1:n.429-6248G>A
XR_938685.1:n.1109C>T
XR_938686.1:n.1100C>T
XR_938687.1:n.973C>T
NM_000670.5:c.881C>T MANE Select NP_000661.2:p.Ser294Leu
NM_001306171.2:c.938C>T NP_001293100.1:p.Ser313Leu
NM_001306172.2:c.938C>T NP_001293101.1:p.Ser313Leu