Canonical Allele Identifier: CA377355665

Gene: SFTPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79612431G>A , CM000672.2:g.79612431G>A	GRCh38
NC_000010.10:g.81372187G>A , CM000672.1:g.81372187G>A	GRCh37
NG_021189.1:g.6493G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398636.8:c.292G>A MANE Select	ENSP00000381633.3:p.Gly98Arg
ENST00000398636.7:c.292G>A	ENSP00000381633.3:p.Gly98Arg
ENST00000419470.6:c.337G>A	ENSP00000397082.2:p.Gly113Arg
ENST00000428376.6:c.292G>A	ENSP00000411102.2:p.Gly98Arg
ENST00000429958.5:c.292G>A	ENSP00000395527.1:p.Gly98Arg
ENST00000439264.1:c.292G>A	ENSP00000401649.1:p.Gly98Arg
NM_001093770.2:c.337G>A	NP_001087239.2:p.Gly113Arg
NM_001164644.1:c.292G>A	NP_001158116.1:p.Gly98Arg
NM_001164645.1:c.190G>A	NP_001158117.1:p.Gly64Arg
NM_001164646.1:c.145G>A	NP_001158118.1:p.Gly49Arg
NM_001164647.1:c.292G>A	NP_001158119.1:p.Gly98Arg
NM_005411.4:c.292G>A	NP_005402.3:p.Gly98Arg
XM_005270062.3:c.292G>A	XP_005270119.1:p.Gly98Arg
XM_006717953.2:c.337G>A	XP_006718016.1:p.Gly113Arg
XM_005270062.5:c.292G>A	XP_005270119.1:p.Gly98Arg
NM_001093770.3:c.337G>A	NP_001087239.2:p.Gly113Arg
NM_001164644.2:c.292G>A	NP_001158116.1:p.Gly98Arg
NM_001164645.2:c.190G>A	NP_001158117.1:p.Gly64Arg
NM_001164646.2:c.145G>A	NP_001158118.1:p.Gly49Arg
NM_005411.5:c.292G>A MANE Select	NP_005402.3:p.Gly98Arg