Canonical Allele Identifier: CA396768421
Gene: FA2H HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.74808554A>C (hg19) chr16:g.74774656A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774656A>C , CM000678.2:g.74774656A>C GRCh38
NC_000016.9:g.74808554A>C , CM000678.1:g.74808554A>C GRCh37
NC_000016.8:g.73366055A>C NCBI36
NG_017070.1:g.5176T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.100T>G MANE Select ENSP00000219368.3:p.Tyr34Asp
ENST00000219368.7:c.100T>G ENSP00000219368.3:p.Tyr34Asp
ENST00000567683.5:c.100T>G ENSP00000455126.1:p.Tyr34Asp
NM_024306.4:c.100T>G NP_077282.3:p.Tyr34Asp
XM_011523317.1:c.100T>G XP_011521619.1:p.Tyr34Asp
XM_011523318.1:c.100T>G XP_011521620.1:p.Tyr34Asp
XM_011523317.3:c.100T>G XP_011521619.1:p.Tyr34Asp
NM_024306.5:c.100T>G MANE Select NP_077282.3:p.Tyr34Asp
Search 100 bp 5'
Search 100 bp 3'