Canonical Allele Identifier: CA4108942
Community Standard Title: NM_020223.4(FAM20C):c.608C>T (p.Pro203Leu)
Gene: FAM20C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.195556C>T , CM000669.2:g.195556C>T GRCh38
NC_000007.13:g.195556C>T , CM000669.1:g.195556C>T GRCh37
NC_000007.12:g.290639C>T NCBI36
NG_033970.1:g.7588C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020223.4:c.608C>T MANE Select NP_064608.2:p.Pro203Leu
ENST00000313766.6:c.608C>T MANE Select ENSP00000322323.5:p.Pro203Leu
NM_020223.3:c.608C>T NP_064608.2:p.Pro203Leu
ENST00000313766.5:c.608C>T ENSP00000322323.5:p.Pro203Leu
ENST00000477004.1:n.89C>T
XM_011515457.1:c.608C>T XP_011513759.1:p.Pro203Leu
XM_017012450.1:c.608C>T XP_016867939.1:p.Pro203Leu
XM_017012451.1:c.608C>T XP_016867940.1:p.Pro203Leu
XM_017012452.1:c.608C>T XP_016867941.1:p.Pro203Leu
XM_017012453.1:c.608C>T XP_016867942.1:p.Pro203Leu
XM_017012454.1:c.608C>T XP_016867943.1:p.Pro203Leu
XR_001744837.1:n.834C>T
XR_242097.3:n.834C>T