Canonical Allele Identifier: CA631718394
Community Standard Title: NM_001201338.2(SAFB):c.-40G>A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.5623166G>A , CM000681.2:g.5623166G>A GRCh38
NC_000019.9:g.5623177G>A , CM000681.1:g.5623177G>A GRCh37
NC_000019.8:g.5574177G>A NCBI36
NG_050735.1:g.4762C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001201338.2:c.-40G>A (SAFB) MANE Select NP_001188267.1:n.-40G>A
ENST00000588852.2:c.-40G>A (SAFB) MANE Select ENSP00000467423.1:n.-40G>A
NM_001201338.1:c.-40G>A (SAFB) NP_001188267.1:n.-40G>A
NM_001201339.1:c.-40G>A (SAFB) NP_001188268.1:n.-40G>A
NM_001201339.2:c.-40G>A (SAFB) NP_001188268.1:n.-40G>A
NM_001201340.1:c.-40G>A (SAFB) NP_001188269.1:n.-40G>A
NM_001201340.2:c.-40G>A (SAFB) NP_001188269.1:n.-40G>A
NM_001320571.1:c.-239G>A (SAFB) NP_001307500.1:n.-239G>A
NM_001320571.2:c.-239G>A (SAFB) NP_001307500.1:n.-239G>A
NM_001320572.1:c.-40G>A (SAFB) NP_001307501.1:n.-40G>A
NM_001320572.2:c.-40G>A (SAFB) NP_001307501.1:n.-40G>A
NM_002967.3:c.-40G>A (SAFB) NP_002958.2:n.-40G>A
NM_002967.4:c.-40G>A (SAFB) NP_002958.2:n.-40G>A
NR_037699.1:n.132G>A (SAFB)
ENST00000292123.9:c.-40G>A (SAFB) ENSP00000292123.4:n.-40G>A
ENST00000454510.5:c.-40G>A (SAFB) ENSP00000415895.1:n.-40G>A
ENST00000586934.5:n.46G>A (SAFB)
ENST00000588852.1:c.-40G>A (SAFB) ENSP00000467423.1:n.-40G>A
ENST00000589863.5:c.-40G>A (SAFB) ENSP00000468543.1:n.-40G>A
ENST00000590262.1:c.-97+785C>T (SAFB2) ENSP00000468454.1:n.-97+785C>T
ENST00000591666.5:n.84G>A (SAFB)
ENST00000592224.5:c.-40G>A (SAFB) ENSP00000464840.1:n.-40G>A
XM_006722839.1:c.-40G>A (SAFB) XP_006722902.1:n.-40G>A
XM_017027114.1:c.-239G>A (SAFB) XP_016882603.1:n.-239G>A
XM_017027115.1:c.-239G>A (SAFB) XP_016882604.1:n.-239G>A
XM_017027116.1:c.-888G>A (SAFB) XP_016882605.1:n.-888G>A
XM_017027117.1:c.-888G>A (SAFB) XP_016882606.1:n.-888G>A
XM_017027118.1:c.-888G>A (SAFB) XP_016882607.1:n.-888G>A