Canonical Allele Identifier: CA10133138

Gene: GGTLC2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.22646472G>A , CM000684.2:g.22646472G>A	GRCh38
NC_000022.10:g.22988942G>A , CM000684.1:g.22988942G>A	GRCh37
NC_000022.9:g.21318942G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_199127.3:c.127G>A MANE Select	NP_954578.2:p.Val43Ile
ENST00000448514.3:c.127G>A MANE Select	ENSP00000415676.2:p.Val43Ile
NM_001282879.1:c.127G>A	NP_001269808.1:p.Val43Ile
NM_001282879.2:c.127G>A	NP_001269808.1:p.Val43Ile
NM_001391910.1:c.127G>A	NP_001378839.1:p.Val43Ile
NM_001391911.1:c.127G>A	NP_001378840.1:p.Val43Ile
NM_199127.2:c.127G>A	NP_954578.2:p.Val43Ile
ENST00000417145.2:n.163G>A
ENST00000448514.1:c.127G>A	ENSP00000415676.1:p.Val43Ile
ENST00000448514.2:c.127G>A	ENSP00000415676.2:p.Val43Ile
ENST00000480559.5:c.127G>A	ENSP00000419751.1:p.Val43Ile
ENST00000480559.6:c.127G>A	ENSP00000419751.1:p.Val43Ile
ENST00000613850.4:c.127G>A	ENSP00000478615.1:p.Val43Ile
ENST00000618722.4:c.127G>A	ENSP00000483019.1:p.Val43Ile
ENST00000651213.1:c.127G>A	ENSP00000498815.1:p.Val43Ile
ENST00000652219.1:c.127G>A	ENSP00000498628.1:p.Val43Ile
ENST00000652249.1:c.127G>A	ENSP00000499029.1:p.Val43Ile
XM_005261815.3:c.196G>A	XP_005261872.2:p.Val66Ile
XM_005261817.2:c.127G>A	XP_005261874.1:p.Val43Ile
XM_005261817.3:c.127G>A	XP_005261874.1:p.Val43Ile
XM_005261818.2:c.196G>A	XP_005261875.1:p.Val66Ile
XM_011530497.1:c.127G>A	XP_011528799.1:p.Val43Ile
XM_024452301.1:c.127G>A	XP_024308069.1:p.Val43Ile