Canonical Allele Identifier: CA13161759
Gene: SFTPD HGNC NCBI
MBL1P HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.79943078T>C , CM000672.2:g.79943078T>C GRCh38
NC_000010.10:g.81702834T>C , CM000672.1:g.81702834T>C GRCh37
NC_000010.9:g.81692814T>C NCBI36
NG_042218.1:g.11028A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372292.8:c.200-199A>G (SFTPD) MANE Select ENSP00000361366.3:n.200-199A>G
ENST00000678361.1:n.1631A>G (SFTPD)
ENST00000679234.1:n.1869A>G (SFTPD)
ENST00000372292.7:c.200-199A>G (SFTPD) ENSP00000361366.3:n.200-199A>G
ENST00000421889.1:n.333+1543T>C (MBL1P)
ENST00000444384.3:c.239-199A>G (SFTPD) ENSP00000394325.1:n.239-199A>G
NM_003019.4:c.200-199A>G (SFTPD) NP_003010.4:n.200-199A>G
XM_011540087.1:c.200-199A>G (SFTPD) XP_011538389.1:n.200-199A>G
XM_011540088.1:c.200-199A>G (SFTPD) XP_011538390.1:n.200-199A>G
XM_011540088.2:c.200-199A>G (SFTPD) XP_011538390.1:n.200-199A>G
NM_003019.5:c.200-199A>G (SFTPD) MANE Select NP_003010.4:n.200-199A>G
Search 100 bp 5'
Search 100 bp 3'