Canonical Allele Identifier: CA2634286397
Gene: FA2H HGNC NCBI

Linked Data

gnomAD v4: 16-74713396-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713396C>A , CM000678.2:g.74713396C>A GRCh38
NC_000016.9:g.74747294C>A , CM000678.1:g.74747294C>A GRCh37
NC_000016.8:g.73304795C>A NCBI36
NG_017070.1:g.66436G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*794G>T MANE Select ENSP00000219368.3:n.*794G>T
ENST00000219368.7:c.*794G>T ENSP00000219368.3:n.*794G>T
ENST00000562145.1:n.1634G>T
NM_024306.4:c.*794G>T NP_077282.3:n.*794G>T
XM_011523319.1:c.*794G>T XP_011521621.1:n.*794G>T
XM_011523319.2:c.*794G>T XP_011521621.1:n.*794G>T
NM_024306.5:c.*794G>T MANE Select NP_077282.3:n.*794G>T
Search 100 bp 5'
Search 100 bp 3'