Canonical Allele Identifier: CA15660119

Gene: SFTPD MBL1P

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372292.8:c.199+784G>A (SFTPD) MANE Select	ENSP00000361366.3:n.199+784G>A
ENST00000372292.7:c.199+784G>A (SFTPD)	ENSP00000361366.3:n.199+784G>A
ENST00000421889.1:n.333+4142C>T (MBL1P)
ENST00000444384.3:c.238+784G>A (SFTPD)	ENSP00000394325.1:n.238+784G>A
NM_003019.4:c.199+784G>A (SFTPD)	NP_003010.4:n.199+784G>A
XM_011540087.1:c.199+784G>A (SFTPD)	XP_011538389.1:n.199+784G>A
XM_011540088.1:c.199+784G>A (SFTPD)	XP_011538390.1:n.199+784G>A
XM_011540088.2:c.199+784G>A (SFTPD)	XP_011538390.1:n.199+784G>A
NM_003019.5:c.199+784G>A (SFTPD) MANE Select	NP_003010.4:n.199+784G>A