Canonical Allele Identifier: CA1922423292
Gene: SFTPD HGNC NCBI
MBL1P HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.79945677C>A , CM000672.2:g.79945677C>A GRCh38
NC_000010.10:g.81705433C>A , CM000672.1:g.81705433C>A GRCh37
NC_000010.9:g.81695413C>A NCBI36
NG_042218.1:g.8429G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372292.8:c.199+784G>T (SFTPD) MANE Select ENSP00000361366.3:n.199+784G>T
ENST00000372292.7:c.199+784G>T (SFTPD) ENSP00000361366.3:n.199+784G>T
ENST00000421889.1:n.333+4142C>A (MBL1P)
ENST00000444384.3:c.238+784G>T (SFTPD) ENSP00000394325.1:n.238+784G>T
NM_003019.4:c.199+784G>T (SFTPD) NP_003010.4:n.199+784G>T
XM_011540087.1:c.199+784G>T (SFTPD) XP_011538389.1:n.199+784G>T
XM_011540088.1:c.199+784G>T (SFTPD) XP_011538390.1:n.199+784G>T
XM_011540088.2:c.199+784G>T (SFTPD) XP_011538390.1:n.199+784G>T
NM_003019.5:c.199+784G>T (SFTPD) MANE Select NP_003010.4:n.199+784G>T
Search 100 bp 5'
Search 100 bp 3'