Canonical Allele Identifier: CA46634985

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47023306G>A , CM000664.2:g.47023306G>A	GRCh38
NC_000002.11:g.47250445G>A , CM000664.1:g.47250445G>A	GRCh37
NC_000002.10:g.47103949G>A	NCBI36
NG_034143.1:g.112178G>A
NG_034143.2:g.112178G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.1511-102G>A MANE Select	NP_065191.2:n.1511-102G>A
ENST00000319190.11:c.1511-102G>A MANE Select	ENSP00000316699.5:n.1511-102G>A
NM_001288951.1:c.1511-102G>A	NP_001275880.1:n.1511-102G>A
NM_001288951.2:c.1511-102G>A	NP_001275880.1:n.1511-102G>A
NM_001288953.1:c.1409-102G>A	NP_001275882.1:n.1409-102G>A
NM_001288953.2:c.1409-102G>A	NP_001275882.1:n.1409-102G>A
NM_001288955.1:c.449-102G>A	NP_001275884.1:n.449-102G>A
NM_001288955.2:c.449-102G>A	NP_001275884.1:n.449-102G>A
NM_020458.3:c.1511-102G>A	NP_065191.2:n.1511-102G>A
ENST00000319190.9:c.1511-102G>A	ENSP00000316699.5:n.1511-102G>A
ENST00000394850.6:c.1511-102G>A	ENSP00000378320.2:n.1511-102G>A
ENST00000409245.5:c.1409-102G>A	ENSP00000386307.1:n.1409-102G>A
ENST00000409825.5:c.1459-102G>A
ENST00000440051.1:c.318-102G>A
ENST00000441914.5:c.1352-102G>A
ENST00000461601.5:n.1836-102G>A
ENST00000484061.5:n.676-981G>A
ENST00000491786.5:n.915-102G>A
ENST00000651101.1:n.459-102G>A
ENST00000651415.1:n.302-102G>A
ENST00000652236.1:n.270-981G>A
ENST00000652568.1:n.184-102G>A
ENST00000698500.1:n.3344-102G>A
XM_005264439.2:c.1154-102G>A	XP_005264496.1:n.1154-102G>A
XM_005264439.4:c.1154-102G>A	XP_005264496.1:n.1154-102G>A
XM_011532998.1:c.1154-102G>A	XP_011531300.1:n.1154-102G>A
XM_011532998.3:c.1154-102G>A	XP_011531300.1:n.1154-102G>A
XM_011532999.1:c.1511-102G>A	XP_011531301.1:n.1511-102G>A
XM_011532999.2:c.1511-102G>A	XP_011531301.1:n.1511-102G>A
XM_011533000.1:c.731-102G>A	XP_011531302.1:n.731-102G>A
XM_011533000.3:c.731-102G>A	XP_011531302.1:n.731-102G>A
XM_011533001.1:c.464-102G>A	XP_011531303.1:n.464-102G>A
XM_011533001.3:c.464-102G>A	XP_011531303.1:n.464-102G>A
XM_017004524.1:c.1511-102G>A	XP_016860013.1:n.1511-102G>A
XM_017004525.1:c.1343-102G>A	XP_016860014.1:n.1343-102G>A
XM_017004526.1:c.1393-5918G>A	XP_016860015.1:n.1393-5918G>A
XM_017004529.1:c.1511-102G>A	XP_016860018.1:n.1511-102G>A
XM_024453013.1:c.476-102G>A	XP_024308781.1:n.476-102G>A
XR_001738853.2:n.1823-102G>A
XR_001738854.1:n.1704-102G>A
XR_939696.1:n.1816-102G>A